Human Mutation

Cover image for Vol. 37 Issue 10

Edited By: Richard G.H. Cotton (1940-2015) and Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/165 (Genetics & Heredity)

Online ISSN: 1098-1004

Mutations in Brief: 2006


Announcement from the Publisher
Mutations in Brief published in 2008
Mutations in Brief published in 2007
Mutations in Brief published in 2006
Mutations in Brief published in 2005
Mutations in Brief published in 2004
Mutations in Brief published in 2003
Mutations in Brief published in 2002
Mutations in Brief published in 2001
Mutations in Brief accepted in 1995-2000

 Erratum: Molecular Bases of Antithrombin Deficiency: Twenty-two Novel Mutations in the Antithrombin Gene
Véronique Picard, Ulrike Nowak-Göttl, Christine Biron-Andreani, Marc Fouassier, Corinne Frere, Michèle Goualt-Heilman, Emmanuel de Maistre, Sandra Regina, Lucia Rugeri, Catherine Ternisien, Catherine Trichet, Christine Vergnes, Martine Aiach, and Martine Alhenc-Gelas
Original reference: Picard et al., Human Mutation 27:600 (2006). Online MIB #896
Online Citation: Human Mutation , Mutation in Brief #939(2006)Online

 Determination of the Mutation Spectrum of the EXT1/EXT2 Genes in British Caucasian Patients With Multiple Osteochondromas, and Exclusion of Six Candidate Genes in EXT Negative Cases
Lorne Lonie, Daniel E. Porter, Maria Fraser, Trevor Cole, Carol Wise, Laura Yates, Emma Wakeling, Ed Blair, Eva Morava, Anthony P. Monaco, and Jiannis Ragoussis
Received April 24, 2006; accepted July 31, 2006.
Online Citation: Human Mutation , Mutation in Brief #938(2006)Online

 Red Cell Glucose Phosphate Isomerase (GPI): A Molecular Study of Three Novel Mutations Associated With Hereditary Nonspherocytic Hemolytic Anemia
Ada Repiso, Baldomero Oliva, Joan-Lluis Vives-Corrons, Ernest Beutler, José Carreras, and Fernando Climent
Received April 3, 2006; accepted July 25, 2006.
Online Citation: Human Mutation , Mutation in Brief #937(2006)Online

 Identification of Novel Mutations in the Human Ornithine Transcarbamylase (OTC) Gene of Korean Patients with OTC Deficiency and Transient Expression of the Mutant Proteins In Vitro
Gu-Hwan Kim, Jin-Ho Choi, Hyung-Haon Lee, Sangwook Park, Sung-Su Kim, and Han-Wook Yoo
Received March 14, 2006; accepted July 17, 2006.
Online Citation: Human Mutation , Mutation in Brief #936(2006)Online

 Deficient Membrane Integration of the Novel p.N14D- GJB2 Mutant Associated With Non-Syndromic Hearing Impairment
B. Haack, K. Schmalisch, M. Palmada, C. Böhmer, N. Kohlschmidt, A. Keilmann, U. Zechner, A. Limberger, S. Beckert, H.P. Zenner, F. Lang, and S. Kupka
Received May 24, 2006; accepted July 18, 2006.
Online Citation: Human Mutation , Mutation in Brief #935(2006)Online

 A New Genetic Isolate With a Unique Phenotype of Syndromic Oculocutaneous Albinism: Clinical, Molecular, and Cellular Characteristics
Nira Schreyer-Shafir, Marjan Huizing, Yair Anikster, Ziva Nusinker, Idit Bejarano-Achache, Genia Maftzir, Luba Resnik, Amanda Helip-Wooley, Wendy Westbroek, Libe Gradstein, Ada Rosenmann, and Anat Blumenfeld
Received February 25, 2006; accepted July 14, 2006.
Online Citation: Human Mutation , Mutation in Brief #934(2006)Online

 Identification of Novel Mutations in PEX2 , PEX6 , PEX10 , PEX12 , and PEX13 in Zellweger Spectrum Patients
Cindy Krause, Hendrik Rosewich, Melissa Thanos, and Jutta Gärtner
Received January 20, 2006; accepted July 6, 2006.
Online Citation: Human Mutation , Mutation in Brief #933(2006)Online

 Recessive Arrhythmogenic Right Ventricular Dysplasia Due to Novel Cryptic Splice Mutation in PKP2
Mark M. Awad, Darshan Dalal, Crystal Tichnell, Cynthia James, April Tucker, Theodore Abraham, Philip J. Spevak, Hugh Calkins, and Daniel P. Judge
Received February 24, 2006; accepted June 23, 2006.
Online Citation: Human Mutation , Mutation in Brief #932(2006)Online

 Low Frequency of AXIN2 Mutations and High Frequency of MUTYH Mutations in Patients With Multiple Polyposis
Sophie Lejeune, François Guillemot, Jean-Pierre Triboulet, Stéphane Cattan, Christine Mouton, PAFNORD Group, Nicole Porchet, Sylvie Manouvrier, and Marie-Pierre Buisine
Received April 5, 2006; accepted June 21, 2006.
Online Citation: Human Mutation , Mutation in Brief #931(2006)Online

 The Cystathionine Beta-Synthase Variant c.844_845ins68 Protects Against CNS Demyelination in X-linked Adrenoleukodystrophy
Michael Linnebank, Alexander Semmler, Wim J. Kleijer, Marianne L.T. van der Sterre,Jutta Gärtner, Klaus Fliessbach, Piotr Sokolowski, Wolfgang Köhler, Uwe Schlegel,Thomas Klockgether, Ronald J.A. Wanders, Stephan Schmidt, Ullrich Wüllner, and Stephan Kemp
Received April 29, 2006; accepted June 14, 2006.
Online Citation: Human Mutation , Mutation in Brief #930(2006)Online

 Biological Effects of Four PSEN1 Gene Mutations Causing Alzheimer Disease With Spastic Paraparesis and Cotton Wool Plaques
Cecile Dumanchin, Isabelle Tournier, Cosette Martin, Mira Didic, Serge Belliard, Bertrand Carlander, François Rouhart, Charles Duyckaerts, Jean-François Pellissier, Jean Baptiste Latouche, Didier Hannequin, Thierry Frebourg, Mario Tosi, and Dominique Campion
Received April 21, 2006; accepted June 12, 2006.
Online Citation: Human Mutation , Mutation in Brief #929(2006)Online

 Unique Substitution of CHEK2 and TP53 Mutations Implicated in Primary Prostate Tumors and Cancer Cell Lines
Li Zheng, Fengwei Wang, Chiping Qian, Roxann M. Neumann, John C. Cheville, Donald J. Tindall, and Wanguo Liu
Received February 14, 2006; accepted June 12, 2006.
Online Citation: Human Mutation , Mutation in Brief #928(2006)Online

 PAR1 Deletions Downstream of SHOX Are the Most Frequent Defect in a Spanish Cohort of Léri-Weill Dyschondrosteosis (LWD) Probands
Sara Benito-Sanz, Darya Gorbenko del Blanco, Miriam Aza-Carmona, Luis F. Magano, Pablo Lapunzina, Jesús Argente, Ángel Campos-Barros, and Karen E. Heath
Received April 7, 2006; accepted June 2, 2006.
Online Citation: Human Mutation , Mutation in Brief #927(2006)Online

 Identification of the Microdeletion Breakpoint in a GLRA1null Allele of Turkish Hyperekplexia Patients
Kristina Becker, Carsten Hohoff, Bernhard Schmitt, Hans-Jürgen Christen, Bernd A. Neubauer, Torsten Sandrieser, and Cord-Michael Becker
Received January 24, 2006; accepted May 26, 2006.
Online Citation: Human Mutation , Mutation in Brief #926(2006)Online

 ATM Mutations in Italian Families With Ataxia Telangiectasia Include Two Distinct Large Genomic Deletions
Simona Cavalieri, Ada Funaro, Paola Porcedda, Valentina Turinetto, Nicola Migone, Richard A. Gatti, and Alfredo Brusco
Received January 30, 2006; accepted May 25, 2006.
Online Citation: Human Mutation , Mutation in Brief #925(2006)Online

 A Two-Tier Approach to Mutation Detection in the COL4A5 Gene for Alport Syndrome
Kathy King, Frances A Flinter, and Peter M Green
Received March 31, 2006; accepted May 24, 2006.
Online Citation: Human Mutation , Mutation in Brief #924(2006)Online

 Somatic Mutations of GUCY2F , EPHA3 , and NTRK3 in Human Cancers
Laura D. Wood, Eric S. Calhoun, Natalie Silliman, Janine Ptak, Steve Szabo, Steve M. Powell, Gregory J. Riggins, Tian-Li Wang, Hai Yan, Adi Gazdar, Scott E. Kern, Len Pennacchio, Kenneth W. Kinzler, Bert Vogelstein, and Victor E. Velculescu
Received April 12, 2006; accepted May 23, 2006.
Online Citation: Human Mutation , Mutation in Brief #923(2006)Online

 Twenty-one Novel Mutations in the GLB1 Gene Identified in a Large Group of GM1-Gangliosidosis and Morquio B Patients: Possible Common Origin for the Prevalent p.R59H Mutation Among Gypsies
Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu, and Daniel Grinberg
Received March 7, 2006; accepted May 17, 2006.
Online Citation: Human Mutation , Mutation in Brief #922(2006)Online

 Three Novel Thiopurine S-Methyltransferase Allelic Variants ( TPMT*20 , *21 , *22 ) – Association With Decreased Enzyme Function
Elke Schaeffeler, Michel Eichelbaum, Walter Reinisch, Ulrich M. Zanger, and Matthias Schwab
Received November 21, 2005; accepted February 27, 2006.
Online Citation: Human Mutation , Mutation in Brief #921(2006)Online

 Expanding the Spectrum of TBX5 Mutations in Holt-Oram Syndrome: Detection of Two Intragenic Deletions by Quantitative Real Time PCR, and Report of Eight Novel Point Mutations
Wiktor Borozdin, Ana M. Bravo Ferrer Acosta, Michael J. Bamshad, Elke M. Botzenhart, Ursula G. Froster, Johannes Lemke, Albert Schinzel, Stephanie Spranger, Julie McGaughran, Dorothea Wand, Krystyna H. Chrzanowska, and Jürgen Kohlhase
Received January 10, 2006; accepted May 11, 2006.
Online Citation: Human Mutation , Mutation in Brief #920(2006)Online

 Population Distribution of the Functional Caspase-12 Allele
Kritika Kachapati, Thomas R. O'Brien, Julie Bergeron, Mingdong Zhang, and Michael Dean
Received February 14, 2006; accepted May 5, 2006.
Online Citation: Human Mutation , Mutation in Brief #919(2006)Online

 CpG Methylation Accounts for a Recurrent Mutation (c.1222C>T) in the Human PAH Gene
B.C. Murphy, C.R. Scriver, and S.M. Singh
Received January 24, 2006; accepted May 5, 2006.
Online Citation: Human Mutation , Mutation in Brief #918(2006)Online

 Identification of Forty-Five Novel and Twenty-Three Known NF1 Mutations in Chinese Patients With Neurofibromatosis Type 1
Ming-Jen Lee, Yi-Ning Su, Huey-Ling You, Shinn-Chong Chiou, Li-Chu Lin, Chih-Chao Yang, Wang-Chao Lee, Wu-Liang Hwu, Fon-Jou Hsieh, Dennis A. Stephenson, and Chia-Li Yu
Received February 20, 2006; accepted May 2, 2006.
Online Citation: Human Mutation , Mutation in Brief #917(2006)Online

 Molecular Dissection of the Y Chromosome Haplogroup E-M78 (E3b1a): A Posteriori Evaluation of a Microsatellite-Network-Based Approach Through Six New Biallelic Markers
Fulvio Cruciani, Roberta La Fratta, Antonio Torroni, Peter A. Underhill, and Rosaria Scozzari
Received February 12, 2006; accepted April 26, 2006.
Online Citation: Human Mutation , Mutation in Brief #916(2006)Online

 Mutational Analysis of the ABCC6 Gene and the Proximal ABCC6 Gene Promoter in German Patients With Pseudoxanthoma Elasticum (PXE)
Veronika Schulz, Doris Hendig, Maja Henjakovic, Christiane Szliska, Knut Kleesiek, and Christian Götting
Received March 10, 2006; accepted April 19, 2006.
Online Citation: Human Mutation , Mutation in Brief #915(2006)Online

 Missense Mutation in the N-acetylglucosamine-1-phosphotransferase Gene ( GNPTA ) in a Patient With Mucolipidosis II Induces Changes in the Size and Cellular Distribution of GNPTG
Stephan Tiede, Michael Cantz, Jürgen Spranger, and Thomas Braulke
Received February 8, 2006; accepted May 9, 2006.
Online Citation: Human Mutation , Mutation in Brief #914(2006)Online

 Frequency and Localization of Mutations in the 106 Exons of the RYR1 Gene in 50 Individuals With Malignant Hyperthermia
Lucia Galli, Alfredo Orrico, Stefania Lorenzini, Stefano Censini, Michela Falciani, Antonello Covacci, Vincenzo Tegazzin, and Vincenzo Sorrentino
Received February 8, 2006; accepted May 9, 2006.
Online Citation: Human Mutation , Mutation in Brief #913(2006)Online

 Extensive Mutational Analysis of PRKCSH and SEC63 Broadens the Spectrum of Polycystic Liver Disease
Esmé Waanders, René H.M. te Morsche, Rob A. de Man, Jan B.M.J. Jansen, and Joost P.H. Drenth
Received December 27, 2005; accepted April 14, 2006.
Online Citation: Human Mutation , Mutation in Brief #912(2006)Online

 V(D)J Recombinase Mediated Inter-Chromosomal HPRT Alterations at Cryptic Recombination Signal Sequences in Peripheral Human T Cells
Terri L. Messier, J. Patrick O’Neill, and Barry A. Finette
Received December 9, 2005; accepted April 18, 2006.
Online Citation: Human Mutation , Mutation in Brief #911(2006)Online

 Spectrum of Factor XI ( F11 ) Mutations in the UK Population – 116 Index Cases and 140 Mutations
Michael Mitchell, Roger Mountford, Rachel Butler, Anwar Alhaq, Letian Dai, Geoffrey Savidge, and Paula H.B. Bolton-Maggs
Received January 13, 2006; accepted April 17, 2006.
Online Citation: Human Mutation , Mutation in Brief #910(2006)Online

 Sub-Saharan African Coding Sequence Variation and Haplotype Diversity at the NAT2 Gene
Etienne Patin, Christine Harmant, Ken K. Kidd, Judith Kidd, Alain Froment, S. Qasim Mehdi, Lucas Sica, Evelyne Heyer, and Lluís Quintana-Murci
Received February 17, 2006; accepted April 14, 2006.
Online Citation: Human Mutation , Mutation in Brief #909(2006)Online

 Novel and Recurrent Mutations in Keratin KRT5 and KRT14 Genes in Epidermolysis Bullosa Simplex: Implications for Disease Phenotype and Keratin Filament Assembly
Felix B. Müller, Wolfgang Küster, Kerstin Wodecki, Hiram Almeida Jr., Leena Bruckner-Tuderman, Thomas Krieg, Bernhard P. Korge, and Meral J. Arin
Received January 12, 2006; accepted April 10, 2006.
Online Citation: Human Mutation , Mutation in Brief #908(2006)Online

 A Common Mutation in the CBS Gene Explains a High Incidence of Homocystinuria in the Qatari Population
Mahmoud F. El-Said, Ramin Badii, M. S. Bessisso, Noora Shahbek, Mariam G El-Ali, Mariam El-Marikhie, M. El-Zyoid, M.S.Z. Salem, Abdulbari Bener, Georg F. Hoffmann, and Johannes Zschocke
Received November 29, 2005; accepted April 6, 2006.
Online Citation: Human Mutation , Mutation in Brief #907(2006)Online

 Werner Syndrome and Mutations of the WRN and LMNA Genes in France
Nancy A. Uhrhammer, Laurence Lafarge, Laetitia Dos Santos, Anna Domaszewska, Magdalena Lange, Yong Yang, Selim Aractingi, Didier Bessis, and Yves-Jean Bignon
Received October 13, 2005; accepted March 31, 2006.
Online Citation: Human Mutation , Mutation in Brief #906(2006)Online

 McArdle Disease: The Mutation Spectrum of PYGM in a Large Italian Cohort
Claudio Bruno, Denise Cassandrini, Andrea Martinuzzi, Antonio Toscano, Maurizio Moggio, Lucia Morandi, Serena Servidei, Tiziana Mongini, Corrado Angelini, Olimpia Musumeci, Giacomo P Comi, Costanza Lamperti, Massimiliano Filosto, Federico Zara, and Carlo Minetti
Received January 20, 2006; accepted March 29, 2006.
Online Citation: Human Mutation , Mutation in Brief #905(2006)Online

 Identification of a Novel Mutation of SH3BP2 in Cherubism and Demonstration that SH3BP2 Mutations Lead to Increased NFAT Activation
Steven A. Lietman, Natasha Kalinchinko, Xichao Deng, Ronald Kohanski, and Michael A. Levine
Received November 7, 2005; accepted March 27, 2006.
Online Citation: Human Mutation , Mutation in Brief #904(2006)Online

 Genetic Variability, Haplotypes, and htSNPs for Exons 1 at the Human UGT1A Locus
Sushma S. Thomas, Shuying S. Li, Johanna W. Lampe, John D. Potter, and Jeannette Bigler
Received December 20, 2005; accepted March 24, 2006.
Online Citation: Human Mutation , Mutation in Brief #903(2006)Online

 A New Large CFTR Rearrangement Illustrates the Importance of Searching for Complex Alleles
F Niel, M Legendre, T Bienvenu, E Bieth, G Lalau, I Sermet, D Bondeux, R Boukari, J Derelle, P Levy, P Ruszniewski, J Martin, C Costa, M Goossens, and E Girodon
Received November 24, 2005; accepted March 20, 2006.
Online Citation: Human Mutation , Mutation in Brief #902(2006)Online

 Mutation Analysis of COL1A1 and COL1A2 in Patients Diagnosed With Osteogenesis Imperfecta Type I-IV
Rebecca Pollitt, Robert McMahon, Janice Nunn, Robert Bamford, Amal Afifi, Nicholas Bishop, and Ann Dalton
Received December 21, 2005; accepted March 16, 2006.
Online Citation: Human Mutation , Mutation in Brief #901(2006)Online

 The Heterogeneous Nature of Germline Mutations in NF1 Patients With Malignant Peripheral Serve Sheath Tumours (MPNSTs)
Meena Upadhyaya, Gill Spurlock, Elisa Majounie, Sian Griffiths, Natalie Forrester, Mike Baser, Susan M Huson, D Gareth Evans, and Rosalie Ferner
Received December 23, 2005; accepted April 3, 2006.
Online Citation: Human Mutation , Mutation in Brief #900(2006)Online

 Mutational Spectrum of Maple Syrup Urine Disease in Spain
Pilar Rodríguez-Pombo, Rosa Navarrete, Begoña Merinero, Paulino Gómez-Puertas, and Magdalena Ugarte
Received January 12, 2006; accepted March 6, 2006.
Online Citation: Human Mutation , Mutation in Brief #899(2006)Online

 In Vitro Analysis of Genomic Instability Triggered by BRCA1 Missense Mutations
Barbara Quaresima, Maria Concetta Faniello, Francesco Baudi, Telma Crugliano, Giovanni Cuda, Francesco Costanzo, and Salvatore Venuta
Received October 18, 2005; accepted February 10, 2006.
Online Citation: Human Mutation , Mutation in Brief #898(2006)Online

 Hepatic and Neuromuscular Forms of Glycogenosis Type III: Nine Mutations in AGL
S. Lucchiari, S. Pagliarani, S. Salani, M. Filocamo, M. Di Rocco, D. Melis, C. Rodolico, O. Musumeci, A. Toscano, N. Bresolin, and G.P. Comi
Received November 17, 2005; accepted March 14, 2006.
Online Citation: Human Mutation , Mutation in Brief #897(2006)Online

 Molecular Bases of Antithrombin Deficiency: Twenty-two Novel Mutations in the Antithrombin Gene
Véronique Picard, Ulrike Nowak-Göttl, Christine Biron-Andreani, Marc Fouassier, Corinne Frere, Michèle Goualt-Heilman, Emmanuel de Maistre, Sandra Regina, Lucia Rugeri, Catherine Ternisien, Catherine Trichet, Christine Vergnes, Martine Aiach, and Martine Alhenc-Gelas
Received November 25, 2005; accepted January 31, 2006.
Online Citation: Human Mutation , Mutation in Brief #896(2006)Online

 Novel Sequence Variants in Dysferlin-Deficient Muscular Dystrophy Leading to mRNA Decay and Possible C2-Domain Misfolding
Katrin Wenzel, Miriam Carl, Andreas Perrot, Joanna Zabojszcza, Maziar Assadi, Martin Ebeling, Christian Geier, Peter N. Robinson, Wolfram Kress, Karl-Josef Osterziel, and Simone Spuler
Received July 9, 2005; accepted February 22, 2006.
Online Citation: Human Mutation , Mutation in Brief #895(2006)Online

 Mutational Spectrum of Type I Collagen Genes in Korean Patients With Osteogenesis Imperfecta
Kwang-Soo Lee, Hae-Ryong Song, Tae-Joon Cho, Hyon J. Kim, Tae-Mi Lee, Hyun-Seok Jin, Hyun-Young Park, Seongman Kang, Sung-Chul Jung, and Soo Kyung Koo
Received August 5, 2005; accepted December 9, 2005.
Online Citation: Human Mutation , Mutation in Brief #894(2006)Online

 The Cypriot and Iranian National Mutation Frequency Databases
Marina Kleanthous, Philippos C. Patsalis, Anthi Drousiotou, Mehdi Motazacker, Kyproula Christodoulou, Marios Cariolou, Erol Baysal, Kimia Khrizi, Babak Moghimi, Farzin Pourfarzad, Sjozef van Baal, Constantinos Deltas, Hossein Najmabadi, and George P. Patrinos
Received November 11, 2005; accepted December 5, 2005.
Online Citation: Human Mutation , Mutation in Brief #893(2006)Online

 Distribution of ENG and ACVRL1 (ALK1) Mutations in French HHT Patients
Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, Stéphane Pinson, Marie-Jeanne Marion, Emmanuel Babin, Brigitte Gilbert-Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, and Sophie Giraud, on Behalf of the French Rendu-Osler Network
Received July 26, 2005; accepted February 28, 2006.
Online Citation: Human Mutation , Mutation in Brief #892(2006)Online

 Novel JARID1C/SMCX Mutations in Patients With X-linked Mental Retardation
Andreas Tzschach, Steffen Lenzner, Bettina Moser, Richard Reinhardt, Jamel Chelly, Jean-Pierre Fryns, Tjitske Kleefstra, Martine Raynaud, Gillian Turner, Hans-Hilger Ropers, Andreas Kuss, and Lars Riff Jensen
Received December 22, 2005; accepted February 13, 2006.
Online Citation: Human Mutation , Mutation in Brief #891(2006)Online

 Parental Mosaicism Can Cause Recurrent Transmission of SCN1A Mutations Associated With Severe Myoclonic Epilepsy of Infancy
Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fedirko, Stéphanie Baulac, Cécile Saint-Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac,Isabelle Gourfinkel-An, and Eric LeGuern
Received December 1, 2005; accepted February 23, 2006.
Online Citation: Human Mutation , Mutation in Brief #890(2006)Online

 Trafficking-competent and Trafficking-defective KCNJ2 Mutations in Andersen Syndrome
Leomar Y. Ballester, D. Woodrow Benson, Brenda Wong, Ian H. Law, Katherine D. Mathews, Carlos G. Vanoye, and Alfred L. George, Jr.
Received September 6, 2005; accepted January 26, 2006.
Online Citation: Human Mutation , Mutation in Brief #889(2006)Online

 Distinct Patterns of Germ-Line Deletions in MLH1 and MLH2 : The Implication of Alu Repetitive Element in the Genetic Etiology of Lynch Syndrome (HNPCC)
Lili Li, Susan McVety, Rami Younan, Ping Liang, Desirée Du Sart, Philip H. Gordon, Pierre Hutter, Frans B.L. Hogervorst, George Chong, and William D. Foulkes
Received July 15, 2005; accepted January 18, 2006.
Online Citation: Human Mutation , Mutation in Brief #888(2006)Online

 High Prevalence of CBS p.T191M Mutation in Homocystinuric Patients from Colombia
Marta Bermúdez, Nina Frank, Jaime Bernal, Roser Urreizti, Ignacio Briceño, Begoña Merinero, Celia Perez-Cerdá, Magdalena Ugarte, Daniel Grinberg, Susana Balcells, and Jan P. Kraus
Received May 7, 2005; accepted December 20, 2005.
Online Citation: Human Mutation , Mutation in Brief #887(2006)Online

 MPL Mutations in 23 Patients Suffering from Congenital Amegakaryocytic Thrombocytopenia: The Type of Mutation Predicts the Course of the Disease
Manuela Germeshausen, Matthias Ballmaier, and Karl Welte
Received October 21, 2005; accepted December 21, 2005.
Online Citation: Human Mutation , Mutation in Brief #886(2006)Online

 Functional Analysis of Splicing Mutations and of an Exon 2 Polymorphic Variant of SERPING1/C1NH
Christiane Duponchel, Kamel Djenouhat, Véronique Frémeaux-Bacchi, Nicole Monnier, Christian Drouet, and Mario Tosi
Received July 15, 2005; accepted December 9, 2005.
Online Citation: Human Mutation , Mutation in Brief #885(2006)Online

 Mutation Study of Spanish Patients With Hereditary Hemorrhagic Telangiectasia and Expression Analysis of Endoglin and ALK1
Africa Fernandez-L, Francisco Sanz-Rodriguez, Roberto Zarrabeitia, Alfonso Perez-Molino, Carmelo Morales, Carlos M. Restrepo, Jose R. Ramirez, Eliecer Coto, Gennaro M. Lenato, Carmelo Bernabeu, and Luisa M. Botella
Received July 22, 2005; accepted December 9, 2005.
Online Citation: Human Mutation , Mutation in Brief #884(2006)Online

 Functional Splicing Assay Shows a Pathogenic Intronic Mutation in Neurofibromatosis Type 1 ( NF1 ) Due to Intronic Sequence Exonization
M. Raponi, M. Upadhyaya, and D. Baralle
Received October 17, 2005; accepted December 15, 2005.
Online Citation: Human Mutation , Mutation in Brief #883(2006)Online

 Study of Four Genes Belonging to the Folate Pathway: Transcobalamin 2 Is Involved in the Onset of Non-Syndromic Cleft Lip With or Without Cleft Palate
Marcella Martinelli, Luca Scapoli, Annalisa Palmieri, Furio Pezzetti, Ugo Baciliero, Ernesto Padula, Paolo Carinci, Paolo Giovanni Morselli, and Francesco Carinci
Received June 23, 2005; accepted November 29, 2005.
Online Citation: Human Mutation , Mutation in Brief #882(2006)Online

 A Novel Mutation in the GATA4 Gene in Patients with Tetralogy of Fallot
Georges Nemer, Fatimah Fadlalah, Julna

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