Human Mutation

Cover image for Vol. 38 Issue 3

Edited By: Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Mutations in Brief: 2005


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: Dysferlin Mutations in LGMD2B, Miyoshi Myopathy, and Atypical Dysferlinopathies
Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, France Leturcq, and Nicolas Lévy
Original reference: Nuuyen et al., Human Mutation 26:165 (2005) Online MIB# 826
Online Citation: Human Mutation , Mutation in Brief #859(2005)Online

 Erratum:A Double Missense Variation of the BUB1 Gene and a Defective Mitotic Spindle Checkpoint in the Pancreatic Cancer Cell Line Hs766T
Paula M. Hempen, Harsha Kurpad, Eric S. Calhoun, Susan Abraham, and Scott E. Kern
Original reference: Hempen et al., Human Mutation 21: 445 (2003) Online MIB# 591
Online Citation: Human Mutation , Mutation in Brief #858(2005)Online

 Erratum: Novel Mutations of the PCSK9 Gene Cause Variable Phenotype of Autosomal Dominant Hypercholesterolemia
Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathilde Varret, Catherine Boileau, Pascale Benlian, and Jean-Pierre Rabès
Original reference: Allard et al., Human Mutation 25: 497 (2005) Online MIB# 854
Online Citation: Human Mutation , Mutation in Brief #857(2005)Online

 The Frequency of Mucolipidosis Type IV in the Ashkenazi Jewish Population and the Identification of 3 Novel MCOLN1 Mutations
Gideon Bach, Michael B.T. Webb, Ruth Bargal, Marcia Zeigler, and Joseph Ekstein
Received March 30, 2005; accepted August 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #856(2005)Online

 Four Novel TMC1 (DFNB7/DFNB11) Mutations in Turkish Patients With Congenital Autosomal Recessive Nonsyndromic Hearing Loss
E. Kalay, A. Karaguzel, R. Caylan, A. Heister, F.P.M. Cremers, C.W.R.J. Cremers, H.G. Brunner, A.P.M. de Brouwer, and H. Kremer
Received May 3, 2005; accepted August 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #855(2005)Online

 Novel Mutations of the PCSK9 Gene Cause Variable Phenotype of Autosomal Dominant Hypercholesterolemia
Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathilde Varret, Catherine Boileau, Pascale Benlian, and Jean-Pierre Rabès
Received May 20, 2005; accepted August 24, 2005.
Online Citation: Human Mutation , Mutation in Brief #854(2005)Online

 The First Missense Alteration in the MCPH1 Gene Causes Autosomal Recessive Microcephaly With an Extremely Mild Cellular and Clinical Phenotype
Marc Trimborn, Reyk Richter, Nadine Sternberg, Ioannis Gavvovidis, Detlev Schindler, Andrew P. Jackson, Eva-Christina Prott, Karl Sperling, Gabriele Gillessen-Kaesbach, and Heidemarie Neitzel
Received July 12, 2005; accepted August 23, 2005.
Online Citation: Human Mutation , Mutation in Brief #853(2005)Online

 Nine Mutations Including Three Novel Mutations Among Russian Patients With Acute Intermittent Porphyria
Elena Pischik, Susanna Mehtälä, and Raili Kauppinen
Received April 11, 2005; accepted August 23, 2005.
Online Citation: Human Mutation , Mutation in Brief #852(2005)Online

 Erratum: The Mutational Spectrum of ENPP1 as Arising After the Analysis of 23 Unrelated Patients With Generalized Arterial Calcification of Infancy (GACI)
Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, Peter Nürnberg, and Frank Rutsch
Original reference: Ruf et al., Human Mutation 25: 98 (2005) Online MIB# 768
Online Citation: Human Mutation , Mutation in Brief #851(2005)Online

 Molecular Characterization and Cancer Risk Associated With BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families
A. A. Tesoriero, E. M. Wong, M. A. Jenkins, J. L. Hopper, kConFab, M. A. Brown, G. Chenevix-Trench, A. B. Spurdle, and M. C. Southey
Received November 26, 2004; accepted April 12, 2005.
Online Citation: Human Mutation , Mutation in Brief #850(2005)Online

 Genetic Variant Characterization In Intron 4 of the Surfactant Protein B Gene
Aaron Hamvas, Daniel J. Wegner, Michelle A. Trusgnich, Katherine Madden, Hillary Heins, Ying Liu, Treva Rice, Ping An, Julie Watkins-Torry, F. Sessions Cole
Received March 25, 2005; accepted July 26, 2005.
Online Citation: Human Mutation , Mutation in Brief #849(2005) Online

 Identification of Sixty-two Novel and Twelve Known FBN1 Mutations in Eighty-one Unrelated Probands With Marfan Syndrome and Other Fibrillinopathies
Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, Clara Malattia, Andrea Pilotto, Emanuele Porcu, Eliana Disabella, Nicola Marziliano, Angela Pisani, Luca Lanzarini, Savina Mannarino, Daniela Larizza, Mario Mosconi, Elena Antoniazzi, M. Cristina Zoia, Giulia Meloni, Lorenzo Magrassi, Agnese Brega, Maria Francesca Bedeschi, Isabella Torrente, Francesca Mari, and Luigi Tavazzi
Received February 8, 2005; accepted June 5, 2005.
Online Citation: Human Mutation , Mutation in Brief #848(2005) Online

 Lafora Progressive Myoclonus Epilepsy Mutation Database-EPM2A and NHLRC1 (EMP2B) Genes
Leonarda Ianzano, Junjun Zhang, Elayne M. Chan, Xiao-Chu Zhao, Hannes Lohi, Stephen W. Scherer, and Berge A. Minassian
Received February 8, 2005; accepted June 30, 2005.
Online Citation: Human Mutation , Mutation in Brief #847(2005) Online

 The Human TBX5 Gene Mutation Database
Wolfram Heinritz, Lin Shou, Andre Moschik, and Ursula G. Froster
Received January 12, 2005; accepted June 30, 2005.
Online Citation: Human Mutation , Mutation in Brief #846(2005) Online

 Novel Sequence Variants in the TMC1 Gene in Pakistani Families with Autosomal Recessive Hearing Impairment
Regie Lyn P. Santos, Muhammad Wajid, Mohammad Nasim Khan, Nathan McArthur, Thanh L. Pham, Attya Bhatti, Kwanghyuk Lee, Saba Irshad, Asif Mir, Kai Yan, Maria H. Chahrour, Muhammad Ansar, Wasim Ahmad, and Suzanne M. Leal
Received April 12, 2005; accepted July 13, 2005.
Online Citation: Human Mutation , Mutation in Brief #845(2005) Online

 Novel L2HGDH Mutations in 21 Patients With L-2-hydroxyglutaric Aciduria of Portuguese Origin
L. Vilarinho, M. L. Cardoso, P. Gaspar, C. Barbot, L. Azevedo, L. Diogo, M. Santos, I. Carrilho, I. Fineza, F. Kok, R. Chorão, P. Alegria, E. Martins, J. Teixeira, H. Cabral Fernandes, N.M. Verhoeven, G. S. Salomons, F. M. Santorelli, P. Cabral, A. Amorim, and C. Jakobs
Received March 10, 2005; accepted July 12, 2005.
Online Citation: Human Mutation , Mutation in Brief #844(2005) Online

 Persistent Mild Hypothyroidism Associated With Novel Sequence Variants of the DUOX2 Gene in Two Siblings
Maria Cristina Vigone, Laura Fugazzola, Ilaria Zamproni, Arianna Passoni, Stefania Di Candia, Giuseppe Chiumello, Luca Persani, and Giovanna Weber
Received March 18, 2005; accepted July 11, 2005.
Online Citation: Human Mutation , Mutation in Brief #843(2005) Online

 Thromboxane Synthase (TBXAS1) Polymorphisms in African-American and Caucasian Populations: Evidence for Selective Pressure
Cornelia M. Ulrich, Christopher S. Carlson, Justin Sibert, Elizabeth M. Poole, Joon-Ho Yu, Lee-Ho Wang, Rachel Sparks, John D. Potter, and Jeannette Bigler
Received April 22, 2005; accepted June 30, 2005.
Online Citation: Human Mutation , Mutation in Brief #842(2005) Online

 Mutations of APC and MYH in Unrelated Italian Patients with Adenomatous Polyposis Coli
Gitana Aceto, Maria Cristina Curia, Serena Veschi, Laura De Lellis, Sandra Mammarella, Teresa Catalano, Liborio Stuppia, Giandomenico Palka, Rosa Valanzano, Francesco Tonelli, Vincenzo Casale, Vittoria Stigliano, Francesco Cetta, Pasquale Battista, Renato Mariani-Costantini, and Alessandro Cama
Received March 14, 2005; accepted June 30, 2005.
Online Citation: Human Mutation , Mutation in Brief #841(2005) Online

 Linear Allele-Specific Long-Range Amplification: A Novel Method of Long-Range Molecular Haplotyping
Wei-Ming Wu, Hsiang-Ju Tsai, Jong-Hwei S. Pang, Tzu-Hao Wang, Hsin-Shih Wang, Hong-Shang Hong, and Yun-Shien Lee
Received February 26, 2005; accepted June 28, 2005.
Online Citation: Human Mutation , Mutation in Brief #840(2005) Online

 A Novel Functionally Deficient MYH Variant in Individuals With Colorectal Adenomatous Polyposis
Pia Alhopuro, Antony R. Parker, Rainer Lehtonen, Susa Enholm, Heikki J. Järvinen, Jukka-Pekka Mecklin, Auli Karhu, James R. Eshleman, and Lauri A. Aaltonen
Received February 16, 2005; accepted June 13, 2005.
Online Citation: Human Mutation , Mutation in Brief #839(2005) Online

 Marked Decrease in Specific Activity Contributes to Disease Phenotype in Two Human Glucose 6-Phosphate Dehydrogenase Mutants, G6PD Union and G6PD Andalus
Xiao-Tao Wang, Veronica M.S. Lam, and Paul C. Engel
Received September 17, 2004; accepted March 10, 2005.
Online Citation: Human Mutation , Mutation in Brief #838(2005) Online

 De Novo Alu Element Insertions Targeted to a Sequence Common to the BRCA1 and BRCA2 Genes
Erik Teugels, Sylvia De Brakeleer, Guido Goelen, Willy Lissens, Erica Sermijn, and Jacques De Grève
Received January 27, 2005; accepted May 18, 2005.
Online Citation: Human Mutation , Mutation in Brief #837(2005) Online

 DHPLC Analysis of Patients With Nevoid Basal Cell Carcinoma Syndrome Reveals Novel PTCH Missense Mutations in the Sterol-Sensing Domain
A. Marsh, C. Wicking, B. Wainwright, and G. Chenevix-Trench
Received March 18, 2005; accepted June 3, 2005.
Online Citation: Human Mutation , Mutation in Brief #836(2005) Online

 Mutation Finding in Patients With Dysferlin Deficiency and Role of the Dysferlin Interacting Proteins Annexin A1 and A2 in Muscular Dystrophies
Rachele Cagliani, Francesca Magri, Antonio Toscano, Luciano Merlini, Francesco Fortunato, Costanza Lamperti, Carmelo Rodolico, Alessandro Prelle, Manuela Sironi, Mohammed Aguennouz, Patrizia Ciscato, Antonino Uncini, Maurizio Moggio, Nereo Bresolin, and Giacomo P. Comi
Received December 16, 2004; accepted May 25, 2005.
Online Citation: Human Mutation , Mutation in Brief #835(2005) Online

 Molecular Analysis of the HEXA Gene in Italian Patients With Infantile and Late Onset Tay-Sachs Disease: Detection of Fourteen Novel Alleles
Anna Lisa E. Montalvo, Mirella Filocamo, Kristian Vlahoviček, Andrea Dardis, Susanna Lualdi, Fabio Corsolini, Bruno Bembi, and Maria Gabriela Pittis
Received January 26, 2005; accepted May 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #834(2005) Online

 SALL1 Mutation Analysis in Townes-Brocks Syndrome: Twelve Novel Mutations and Expansion of the Phenotype
Elke M. Botzenhart, Andrew Green, Helena Ilyina, Rainer König, R. Brian Lowry, Ivan F. M. Lo, Mordechai Shohat, Leah Burke, Julie McGaughran, Ronit Chafai, Geneviève Pierquin, Ron C Michaelis, Margo L. Whiteford, Kalle O. J. Simola, Bernd Rösler, and Jürgen Kohlhase
Received February 22, 2005; accepted May 11, 2005.
Online Citation: Human Mutation , Mutation in Brief #833(2005) Online

 ATP1A2 Mutations in 11 Families With Familial Hemiplegic Migraine
Florence Riant, Maurizio De Fusco, Paolo Aridon, Anne Ducros, Claire Ploton, Florence Marchelli, Jacqueline Maciazek, Marie Germaine Bousser, Giorgio Casari, and Elisabeth Tournier-Lasserve
Received December 23, 2004; accepted May 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #832(2005) Online

 Mutation Spectrum of the APC Gene in 83 Korean FAP Families
Duck-Woo Kim, Il-Jin Kim, Hio Chung Kang, Hye-Won Park, Yong Shin, Jae-Hyun Park, Sang-Geun Jang, Byong Chul Yoo, Min Ro Lee, Chang Won Hong, Kyu Joo Park, Nahm-Gun Oh, Nam Kyu Kim, Moo Kyung Sung, Bong Wha Lee, Young Jin Kim, Hyucksang Lee, and Jae-Gahb Park
Received January 18, 2005; accepted May 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #831(2005) Online

 Novel EXT1 and EXT2 Mutations Identified by DHPLC in Italian Patients with Multiple Osteochondromas
Elena Pedrini, Alessandro De Luca, Enza Maria Valente, Veronica Maini, Silvia Capponcelli, Marina Mordenti, Rita Mingarelli, Luca Sangiorgi, and Bruno Dallapiccola
Received December 22, 2004; accepted April 21, 2005.
Online Citation: Human Mutation , Mutation in Brief #830(2005) Online

 Twenty-four Novel Mutations in Wilson Disease Patients of Predominantly European Ancestry
D. W. Cox, L. Prat, J. M. Walshe, J. Heathcote, and D. Gaffney
Received August 25, 2004; accepted April 8, 2005.
Online Citation: Human Mutation , Mutation in Brief #829(2005) Online

 Homozygous Microdeletion of Chromosome 4q11-q12 Causes Severe Limb-Girdle Muscular Dystrophy Type 2E with Joint Hyperlaxity and Contractures
Angela M. Kaindl, Sibylle Jakubiczka, Thomas Lücke, Oliver Bartsch, Joachim Weis, Gisela Stoltenburg-Didinger, Fuat Aksu, Konrad Oexle, Katrin Koehler, and Angela Huebner
Received January 24, 2005; accepted April 26, 2005.
Online Citation: Human Mutation , Mutation in Brief #828(2005) Online

 Novel PEX1 Coding Mutations and 5’ UTR Regulatory Polymorphisms
Megan A. Maxwell, Pamela B. Leane, Barbara C. Paton, and Denis I. Crane
Received November 24, 2004; accepted April 12, 2005.
Online Citation: Human Mutation , Mutation in Brief #827(2005) Online

 Dysferlin Mutations in LGMD2B, Miyoshi Myopathy, and Atypical Dysferlinopathies
Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, France Leturcq, and Nicolas Lévy
Received January 20, 2005; accepted May 13, 2005.
Online Citation: Human Mutation , Mutation in Brief #826(2005) Online

 Rapid Recognition of Aberrant dHPLC Elution Profiles Using the Transgenomic NavigatorTM Software
James Colley, Siân Jones, Anthony R. Dallosso, Julie H. Maynard, Vikki Humphreys, Sunil Dolwani, Julian R. Sampson, and Jeremy P. Cheadle
Received February 3, 2005; accepted April 29, 2005.
Online Citation: Human Mutation , Mutation in Brief #825(2005) Online

 Functional In Vitro Characterization of 14 SMPD1 Mutations Identified in Italian Patients Affected by Niemann Pick Type B Disease
Andrea Dardis, Stefania Zampieri, Mirella Filocamo, Alberto Burlina, Bruno Bembi, and Maria Gabriela Pittis
Received February 17, 2005; accepted April 28, 2005.
Online Citation: Human Mutation , Mutation in Brief #824(2005) Online

 3-Methylcrotonyl-CoA Carboxylase Deficiency: Mutation Analysis in 28 Probands, 9 Symptomatic and 19 Detected by Newborn Screening
Maria Fernanda Dantas, Terttu Suormala, Ann Randolph, David Coelho, Brian Fowler, David Valle, and Matthias R. Baumgartner
February 10, 2005; accepted April 20, 2005.
Online Citation: Human Mutation , Mutation in Brief #823(2005) Online

 Erratum: Sodium Channel Gene (SCN5A) Mutations in 44 Index Patients with Brugada Syndrome: Different Incidences in Familial and Sporadic Disease
Eric Schulze-Bahr, Lars Eckardt, Günter Breithardt, Karlheinz Seidl, Thomas Wichter, Christian Wolpert, Martin Borggrefe, and Wilhelm Haverkamp
Original Reference: Schulze-Bahr et al., Human Mutation 21: 651-652 (2003) Online MIB # 615
Online Citation: Human Mutation , Mutation in Brief #822(2005) Online

 Mutation Analysis of the GJB2 (Connexin 26) Gene in Egypt
Rikkert L. Snoeckx, Dalia M. Hassan, Nadia M. Kamal, Kris Van Den Bogaert, and Guy Van Camp
Received September 30, 2004; accepted March 15, 2005.
Online Citation: Human Mutation , Mutation in Brief #821(2005) Online

 Novel COL4A5, COL4A4, and COL4A3 Mutations in Alport Syndrome
Mato Nagel, Sylvia Nagorka, and Oliver Gross
Received November 25, 2004; accepted March 30, 2005.
Online Citation: Human Mutation , Mutation in Brief #820(2005) Online

 Novel Mutations in Type 2 Gaucher Disease in Chinese and Their Functional Characterization by Heterologous Expression
Nelson L.S. Tang, Weimin Zhang, G.A. Grabowski, K.F. To, Francis Y.M. Choy, S.L. Ma, and H.P. Shi
Received October 27, 2004; accepted March 24, 2005.
Online Citation: Human Mutation , Mutation in Brief #819(2005) Online

 Sarcoglycanopathies and the Risk of Undetected Deletion Alleles in Diagnosis
Stefan J. White, Shirley Uitte de Willige, Dennis Verbove, Luisa Politano, Ieke Ginjaar, Martijn H. Breuning, and Johan T. den Dunnen
Received November 15, 2004; accepted March 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #818(2005) Online

 Identification of Nine Novel DHCR7 Missense Mutations in Patients with Smith-Lemli-Opitz Syndrome (SLOS)
John S. Waye, Patrycja A. Krakowiak, Christopher A. Wassif, Allison L. Sterner, Barry Eng, Lisa M. Nakamura, Małgorzata J. M. Nowaczyk, and Forbes D. Porter
Received October 5, 2004; accepted February 25, 2005.
Online Citation: Human Mutation , Mutation in Brief #817(2005) Online

 High Frequency of ENG and ALK1/ACVRL1 Mutations in German HHT Patients
Claudia Schulte, Urban Geisthoff, Andreas Lux, Susan Kupka, Hans-Peter Zenner, Nikolaus Blin, and Markus Pfister
Received December 2, 2004; accepted February 4, 2005.
Online Citation: Human Mutation , Mutation in Brief #816(2005) Online

 Two ATM Variants and Breast Cancer Risk
Deborah Thompson, Antonis C. Antoniou, Mark Jenkins, Anna Marsh, Xiaoqing Chen, Tierney Wayne, Andrea Tesoriero, Roger Milne, Amanda Spurdle, Yvonne Thorstenson, Melissa Southey, Graham G. Giles, kConFab Investigators, Kum Kum Khanna, Joseph Sambrook, Peter Oefner, David Goldgar, John L. Hopper, Doug Easton, and Georgia Chenevix-Trench
Received November 13, 2004; accepted March 21, 2005.
Online Citation: Human Mutation , Mutation in Brief #815(2005) Online

 The Spectrum of Aldolase B (ALDOB) Mutations and the Prevalence of Hereditary Fructose Intolerance in Central Europe
René Santer, Johannes Rischewski, Michaela von Weihe, Marko Niederhaus, Sonja Schneppenheim, Kurt Baerlocher, Alfried Kohlschütter, Ania Muntau, Hans Georg Posselt, Beat Steinmann, and Reinhard Schneppenheim
Received November 23, 2004; accepted February 3, 2005.
Online Citation: Human Mutation , Mutation in Brief #814(2005) Online

 Novel and Recurrent Mutations in the C-terminal Domain of COMP Cluster in Two Distinct Regions and Result in a Spectrum of Phenotypes Within the Pseudoachondroplasia – Multiple Epiphyseal Dysplasia Disease Group
Jason Kennedy, Gail C. Jackson, Faye S. Barker, Seema Nundlall, Jordi Bella, Michael J Wright, Geert R. Mortier, Katherine Neas, Elizabeth Thompson, Rob Elles, and Michael D Briggs
Received November 17, 2004; accepted February 11, 2005.
Online Citation: Human Mutation , Mutation in Brief #813(2005) Online

 ATM Mutations, Haplotype Analysis, and Immunological Status of Russian Patients With Ataxia Telangiectasia
Geoff W. Birrell, Katherine Kneebone, Michael Nefedov, Elena Nefedova, M.N. Jartsev, Midori Mitsui, Richard A. Gatti, and Martin F. Lavin
Received November 24, 2004; accepted February 9, 2005.
Online Citation: Human Mutation , Mutation in Brief #812(2005) Online

 Autosomal Dominant Hereditary Spastic Paraplegia: DHPLC-Based Mutation Analysis of SPG4 Reveals Eleven Novel Mutations
Clarice Patrono, Valentina Scarano, Federica Cricchi, Mariarosa A. B. Melone, Maria Chiriaco, Alessandro Napolitano, Alessandro Malandrini, Giuseppe De Michele, Lucia Petrozzi, Carlo Giraldi, Lucio Santor, Serena Servidei, Carlo Casali, Alessandro Filla, and Filippo M. Santorelli
Received October 14, 2004; accepted February 25, 2005.
Online Citation: Human Mutation , Mutation in Brief #811(2005) Online

 Characterization of a New Disease-Causing Mutation of SH2D1A in a Family with X-linked Lymphoproliferative Disease
Melinda Erdős, Éva Uzvölgyi, Zoltán Nemes, Olga Török, Éva Rákóczi, Nils Went-Sümegi, János Sümegi, and László Maródi
Received October 12, 2004; accepted February 4, 2005.
Online Citation: Human Mutation , Mutation in Brief #810(2005) Online

 Detection of Heterozygous Deletions and Duplications in the MECP2 Gene in Rett Syndrome by Robust Dosage PCR (RD-PCR)
Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q. Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel, and Steve S. Sommer
Received September 14, 2004; accepted February 7, 2005.
Online Citation: Human Mutation , Mutation in Brief #809(2005) Online

 Nephrogenic Diabetes Insipidus Caused by Mutation of Tyr205: A Key Residue of V2 Vasopressin Receptor Function
Katrin Sangkuhl, Holger Römpler, Wibke Busch, Beate Karges, and Torsten Schöneberg
Received September 24, 2004; accepted February 7, 2005.
Online Citation: Human Mutation , Mutation in Brief #808(2005) Online

 A New Insight into PMM2 Mutations in the French Population
Christiane Le Bizec, Sandrine Vuillaumier-Barrot, Anne Barnier, Thierry Dupré, Geneviève Durand, and Nathalie Seta
Received July 16, 2004; accepted February 7, 2005.
Online Citation: Human Mutation , Mutation in Brief #807(2005) Online

 Identification and Characterization of Three Large Deletions and a Deletion/Polymorphism in the CFTR Gene
F. Chevalier-Porst, G. Souche, and D. Bozon
Received August 23, 2004; accepted February 1, 2005.
Online Citation: Human Mutation , Mutation in Brief #806(2005) Online

 Identification of Novel GCK and HNF1A/TCF1 Mutations and Polymorphisms in German Families with Maturity-Onset Diabetes of the Young (MODY)
Dalia Toaima, Andrea Näke, Jutta Wendenburg, Kirsten Praedicow, Julia Rohayem, Kerstin Engel, Angela Galler, Manfred Gahr, and Min Ae Lee-Kirsch
Received September 22, 2004; accepted January 4, 2005.
Online Citation: Human Mutation , Mutation in Brief #805(2005) Online

 Identification of a Novel Frameshift Mutation in the DFNB31/WHRN Gene in a Tunisian Consanguineous Family with Hereditary Non-Syndromic Recessive Hearing Loss
Abdelaziz Tlili, Ilhem Charfedine, Imed Lahmar, Zaineb Benzina, Ben Amor Mohamed, Dominique Weil, Nabil Idriss, Mohamed Drira, Saber Masmoudi, and Hammadi Ayadi
Received July 26, 2004; accepted January 31, 2005.
Online Citation: Human Mutation , Mutation in Brief #804(2005) Online

 Alu-element Insertion in the Homeodomain of HESX1 and Aplasia of the Anterior Pituitary
Marie-Laure Sobrier, Irène Netchine, Claudine Heinrichs, Nathalie Thibaud, Marie-Pierre Vié-Luton, Guy Van Vliet, and Serge

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