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Edited By: Richard G.H. Cotton (1940-2015) and Garry R. Cutting
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Online ISSN: 1098-1004
Mutations in Brief: 2007
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
The MLH1 Variants p.Arg265Cys and p.Lys618Ala Affect Protein Stability while p.Leu749Gln Affects Heterodimer Formation
Sheron Perera and Bharati Bapat
Received June 27, 2007; accepted October 21, 2007.
Online Citation: Human Mutation , Mutation in Brief #994(2007)Online
A 12-bp Deletion in the 5’-Flanking Region of the SERPINH1 Gene Affects Promoter Activity and Protects Against Preterm Premature Rupture of Membranes in African Americans
Hongyan Wang, Mary D. Sammel, Gerard Tromp, Francesca Gotsch, Indrani Halder, Mark D. Shriver, Roberto Romero, and Jerome F. Strauss III
Received August 16, 2007; accepted October 8, 2007.
Online Citation: Human Mutation , Mutation in Brief #993(2007)Online
Myoclonus-dystonia: Significance of Large SGCE Deletions
A. Grünewald , A. Djarmati , K. Lohmann-Hedrich, K. Farrell, J.A. Zeller, N. Allert, F. Papengut, B. Petersen, V. Fung, C.M. Sue, D. O'Sullivan, N. Mahant, A. Kupsch, R.S. Chuang, K. Wiegers, H. Pawlack, J. Hagenah, L.J. Ozelius, U. Stephani, R. Schuit, A.E. Lang, J. Volkmann, A. Münchau, and C. Klein
Received May 7, 2007; accepted October 5, 2007.
Online Citation: Human Mutation , Mutation in Brief #992(2007)Online
Novel Mutations of the GLA Gene in Japanese Patients with Fabry Disease and Their Functional Characterization by Active Site Specific Chaperone
Masaaki Shimotori, Hiroki Maruyama, Gen Nakamura, Takayuki Suyama, Fumiko Sakamoto, Masaaki Itoh, Shigeaki Miyabayashi, Takahiro Ohnishi, Norio Sakai, Mari Wataya-Kaneda, Mitsuru Kubota, Toshiyuki Takahashi, Tatsuhiko Mori, Kat s uhiko Tamura, Shinji Kageyama, Nobuo Shio, Teruhiko Maeba, Hirokazu Yahagi, Motoko Tanaka, Masayo Oka, Hitoshi Sugiyama, Toshiyuki Sugawara, Noriko Mori, Hiroko Tsukamoto, Keiichi Tamagaki, Shuuji Tanda, Yuka Suzuki, Chiya Shinonaga, Jun-ichi Miyazaki, Satoshi Ishii , and Fumitake Gejyo
Received May 22, 2007; accepted September 26, 2007.
Online Citation: Human Mutation , Mutation in Brief #991(2007)Online
Clinical and Molecular Features of Mitochondrial DNA Depletion Due to Mutations in Deoxyguanosine Kinase
D. P. Dimmock, Q. Zhang, C. Dionisi-Vici, R. Carrozzo, J. Shieh, L-Y Tang, C. Truong,
E. Schmitt, M. Sifry-Platt, S. Lucioli, F.M. Santorelli, C. H. Ficicioglu, M Rodriguez,
K. Wierenga, G. M. Enns, N. Longo, M. H. Lipson, H Vallance, W.J. Craigen, F Scaglia, and L-J. Wong
Received July 24, 2007; accepted September 24, 2007.
Online Citation: Human Mutation , Mutation in Brief #990(2007)Online
Novel Mutations in Exon 2 of MATN3 Affect Residues Within the α- helices of the A-domain and Can Result in the Intracellular Retention of Mutant Matrilin-3
Maryline Fresquet, Gail C. Jackson, John Loughlin, and Michael D. Briggs
Received July 10, 2007; accepted September 19, 2007.
Online Citation: Human Mutation , Mutation in Brief #989(2007)Online
An Unusual Case of Hemochromatosis Due to A New Compound Heterozygosity in HFE (p.[Gly43Asp;His63Asp] [Cys282Tyr]): Structural Implications with Respect to Binding with Transferrin Receptor 1
François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, Estelle Cadet, Karine Foulon, Christine Fourcade, Michel Goossens, David Andrew Case, and Jacques Rochette
Received May 8, 2007; accepted August 27, 2007.
Online Citation: Human Mutation , Mutation in Brief #988(2007)Online
Parental Origin and Somatic Mosaicism of PHOX2B Mutations in Congenital Central Hypoventilation Syndrome
Sara Parodi, Tiziana Bachetti, Francesca Lantieri, Marco Di Duca, Giuseppe Santamaria, Giancarlo Ottonello, Ivana Matera, Roberto Ravazzolo, and Isabella Ceccherini
Received June 21, 2007; accepted August 27, 2007.
Online Citation: Human Mutation , Mutation in Brief #987(2007)Online
Molecular Analysis of SUMF1 Mutations: Stability and Residual Activity of Mutant Formylglycine-Generating Enzyme Determine Disease Severity in Multiple Sulfatase Deficiency
Lars Schlotawa, Robert Steinfeld, Kurt von Figura, Thomas Dierks, and Jutta Gärtner
Received March 24, 2007; accepted August 11, 2007.
Online Citation: Human Mutation , Mutation in Brief #986(2007)Online
Novel Clinico-molecular Insights in Pseudoxanthoma Elasticum Provide an Efficient Molecular Screening Method and a Comprehensive Diagnostic Flowchart
Olivier M. Vanakker, Bart P. Leroy, Paul Coucke, Lionel G. Bercovitch, Jouni Uitto,
Dennis Viljoen, Sharon F. Terry, Petra Van Acker, Dirk Matthys, Bart Loeys, and
Anne De Paepe
Received May 5, 2006; accepted June 29, 2007.
Online Citation: Human Mutation , Mutation in Brief #985(2007)Online
Mutations in LCA5 Are an Uncommon Cause of Leber Congenital Amaurosis (LCA) Type II
Sylvie Gerber, Sylvain Hanein, Isabelle Perrault, Nathalie Delphin, Nisrine Aboussair, Corinne Leowski, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Josseline Kaplan, and Jean-Michel Rozet
Received July 5, 2007; accepted September 26, 2007.
Online Citation: Human Mutation , Mutation in Brief #984(2007)Online
Pathogenic Validation of Unique Germline Intronic Variants of RB1 in Retinoblastoma Patients Using Minigenes
Angelo Gámez-Pozo, Itziar Palacios, Milica Kontic, Ibis Menéndez, Isabel Camino, Purificación García-Miguel, José Abelairas, Ángel Pestaña, and Javier Alonso
Received July 4, 2007; accepted September 28, 2007.
Online Citation: Human Mutation , Mutation in Brief #983(2007)Online
Missense Mutations in the TGM2 Gene Encoding Transglutaminase 2 Are Found in Patients With Early-Onset Type 2 Diabetes
O. Porzio, O. Massa, V. Cunsolo, C. Colombo, M. Malaponti, F. Bertuzzi, T. Hansen, A. Johansen, O. Pedersen, F. Meschi, A. Terrinoni, G. Melino, M. Federici, N. Decarlo, M. Menicagli, D. Campani, P. Marchetti, M. Ferdaoussi, P. Froguel, G. Federici, M. Vaxillaire, and F. Barbetti
Received May 30, 2007; accepted August 31, 2007.
Online Citation: Human Mutation , Mutation in Brief #982(2007)Online
AVPR1A and OXTR Polymorphisms Are Associated With Sexual and Reproductive Behavioral Phenotypes in Humans
Zoë M. Prichard, Andrew J. Mackinnon, Anthony F. Jorm, and Simon Easteal
Received May 7, 2007; accepted July 10, 2007.
Online Citation: Human Mutation , Mutation in Brief #981(2007)Online
Contribution of ABCC6 Genomic Rearrangements to the Diagnosis of Pseudoxanthoma Elasticum in French Patients
Nicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, Patrick Calvas, and Alain Hovnanian
Received February 2, 2007; accepted June 27, 2007.
Online Citation: Human Mutation , Mutation in Brief #980(2007)Online
Association of IL4R Gene Polymorphisms with Asthma in Chinese Populations
Haibing Zhang, Qu Zhang, Liming Wang, Hong Chen, Yuqin Li, Tianpen Cui, Wei Huang, Liangliang Zhang, Fei Yan, Lisa Wang, Yiping Xu, Landian Hu, and Xiangyin Kong
Received December 13, 2005; accepted May 16, 2007.
Online Citation: Human Mutation , Mutation in Brief #979(2007)Online
Atypical Methylmalonic Aciduria: Frequency of Mutations in the Methylmalonyl CoA Epimerase Gene (MCEE)
Abigail B. Gradinger, Caroline Bélair, Lisa C. Worgan, Carter D. Li, Jocelyne Lavallée, David Roquis, David Watkins, and David S. Rosenblatt
Received February 6, 2007; accepted May 9, 2007.
Online Citation: Human Mutation , Mutation in Brief #978(2007)Online
Recurrent Inversion with Concomitant Deletion and Insertion Events in the Coagulation Factor VIII Gene Suggests a New Mechanism for X-Chromosomal Rearrangements Causing Hemophilia A
Christiane Mühle, Martin Zenker, Nadia Chuzhanova, and Holm Schneider
Received March 9, 2007; accepted May 17, 2007.
Online Citation: Human Mutation , Mutation in Brief #977(2007)Online
The Importance of Mutation Detection in Marfan Syndrome and Marfan-Related Disorders: Report of 193 FBN1 Mutations
Paolo Comeglio, Philip Johnson, Gavin Arno, Glen Brice, Alison Evans, José Aragon-Martin, Filipe Pereira da Silva, Anatoli Kiotsekoglou, and Anne Child
Received January 29, 2007; accepted May 7, 2007.
Online Citation: Human Mutation , Mutation in Brief #976(2007)Online
Multiple Sulfatase Deficiency is Due to Hypomorphic Mutations of the SUMF1 Gene
Ida Annunziata, Valentina Bouchè, Alessia Lombardi, Carmine Settembre, and Andrea Ballabio
Received March 20, 2007; accepted May 9, 2007.
Online Citation: Human Mutation , Mutation in Brief #975(2007)Online
Genetic Variant in the HSPB1 Promoter Region Impairs the HSP27 Stress Response
Ines Dierick, Joy Irobi, Sophie Janssens, Jessie Theuns, Robin Lemmens, An Jacobs, Ellen Corsmit, Nicole Hersmus, Ludo Van Den Bosch, Wim Robberecht, Peter De Jonghe, Christine Van Broeckhoven, and Vincent Timmerman
Received March 5, 2007; accepted May 4, 2007.
Online Citation: Human Mutation , Mutation in Brief #974(2007)Online
Multigene Deletions on Chromosome 20q13.13-q13.2 Including SALL4 Result in an Expanded Phenotype of Okihiro Syndrome Plus Developmental Delay
Wiktor Borozdin, John M. Graham, Jr., Detlef Böhm, Michael J. Bamshad, Stefanie Spranger, Leah Burke, Michael Leipoldt, and Jürgen Kohlhase
Received March 5, 2007; accepted May 4, 2007.
Online Citation: Human Mutation , Mutation in Brief #973(2007)Online
A Novel Deletion in the FTL Gene Causes Hereditary Hyperferritinemia Cataract Syndrome (HHCS) by Alteration of the Transcription Start Site
Kathryn P Burdon, Shiwani Sharma, Celia S Chen, David P Dimasi, David A Mackey, and Jamie E Craig
Received January 15, 2007; accepted April 10, 2007.
Online Citation: Human Mutation , Mutation in Brief #972(2007)Online
A Single Mutation in the GALC Gene Is Responsible for the Majority of Late Onset Krabbe Disease Patients in the Catania (Sicily, Italy) Region
Willy Lissens, Alessia Arena, Sara Seneca, Mohammad Rafi, Giovanni Sorge, Inge Liebaers, David Wenger, and Agata Fiumara
Received February 26, 2007; accepted April 16, 2007.
Online Citation: Human Mutation , Mutation in Brief #971(2007)Online
p.Gln200Glu, a Putative Constitutively Active Mutant of Rod α-Transducin ( GNAT1 ) in Autosomal Dominant Congenital Stationary Night Blindness
Viktoria Szabo, Hans-Jürgen Kreienkamp, Thomas Rosenberg, and Andreas Gal
Received July 20, 2006; accepted April 12, 2007.
Online Citation: Human Mutation , Mutation in Brief #970(2007)Online
Women Heterozygous for NALP7/NLRP7 Mutations Are at Risk for Reproductive Wastage: Report of Two Novel Mutations
Jinhua Qian, Catherine Deveault, Rashmi Bagga, Xing Xie, and Rima Slim
Received January 23, 2007; accepted April 5, 2007.
Online Citation: Human Mutation , Mutation in Brief #969(2007)Online
Missense and Silent Mutations in COL2A1 Result in Stickler Syndrome but Via Different Molecular Mechanisms
Allan J. Richards, Maureen Laidlaw, Sarah P. Meredith, Pallavi Shankar, Arabella V. Poulson, John D. Scott, and Martin P. Snead
Received October 20, 2006; accepted January 23, 2007.
Online Citation: Human Mutation , Mutation in Brief #968(2007)Online
Aberrant Splicing Is a Common Mutational Mechanism in MKS1 , a Key Player in Meckel-Gruber Syndrome
Valeska Frank, Nadina Ortiz Brüchle, Silke Mager, Susanna G. M. Frints, Axel Bohring, Gabriele du Bois, Irmgard Debatin, Heide Seidel, Jan Senderek, Nesrin Besbas, Unda Todt, Christian Kubisch, Tiemo Grimm, Fulya Teksen, Sevim Balci, Klaus Zerres, and Carsten Bergmann
Received January 24, 2007; accepted March 30, 2007.
Online Citation: Human Mutation , Mutation in Brief #967(2007)Online
Novel Mutations in the ZEB1 Gene Identified in Czech and British Patients With Posterior Polymorphous Corneal Dystrophy
Petra Liskova, Stephen J. Tuft, Rhian Gwilliam, Neil D. Ebenezer, Katerina Jirsova, Quincy Prescott, Radka Martincova, Marike Pretorius, Neil Sinclair, David L. Boase, Margaret J. Jeffrey, Panos Deloukas, Alison J. Hardcastle, Martin Filipec, and Shomi S. Bhattacharya1
Received February 1, 2007; accepted March 16, 2007.
Online Citation: Human Mutation , Mutation in Brief #966(2007)Online
Allelic Heterogeneity of Molecular Events in Human Coagulation Factor IX in Asian Indians
Anubha Mahajan, Sreenivas Chavali, Saurabh Ghosh, Madhulika Kabra, Madhumita Roy Chowdhury, The Indian Genome Variation Consortium, and Dwaipayan Bharadwaj
Received October 16, 2006; accepted March 12, 2007.
Online Citation: Human Mutation , Mutation in Brief #965(2007)Online
Screening for the BRCA1-ins6kbEx13 Mutation: Potential for Misdiagnosis
Susan J Ramus, Patricia A Harrington, Carole Pye, Susan Peock, Margaret R Cook, Mark J Cox, Ian J Jacobs, Richard A DiCioccio, Alice S Whittemore, M Steven Piver, EMBRACE, Douglas F Easton, Bruce AJ Ponder, Paul DP Pharoah, and Simon A Gayther
Received November 17, 2006; accepted March 12, 2007.
Online Citation: Human Mutation , Mutation in Brief #964(2007)Online
Novel Mutations in FRMD7 in X-linked Congenital Nystagmus
Daniel F. Schorderet, Leila Tiab, Marie-Claire Gaillard, Birgit Lorenz, Georges Klainguti, John B. Kerrison, Elias I. Traboulsi, and Francis L. Munier
Received January 15, 2007; accepted February 26, 2007.
Online Citation: Human Mutation , Mutation in Brief #963(2007)Online
Mutational Analysis of CACNA1G in Idiopathic Generalized Epilepsy
Baljinder Singh, Arnaud Monteil, Isabelle Bidaud, Yoshihisa Sugimoto, Toshimitsu Suzuki, Shin-ichiro Hamano, Hirokazu Oguni, Makiko Osawa, Maria E. Alonso5, Antonio V. Delgado-Escueta, Yushi Inoue, Norio Yasui-Furukori, Sunao Kaneko, Philippe Lory, and Kazuhiro Yamakawa
Received September 1, 2006; accepted February 28, 2007.
Online Citation: Human Mutation , Mutation in Brief #962(2007)Online
Molecular Analysis and Characterization of Nine Novel CTSK Mutations in Twelve Patients Affected by Pycnodysostosis
Michela Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, and Mirella Filocamo
Received December 11, 2006; accepted February 8, 2007.
Online Citation: Human Mutation , Mutation in Brief #961(2007)Online
Spectrum of MKS1 and MKS3 Mutations in Meckel Syndrome: A Genotype-Phenotype Correlation
Rana Khaddour, Ursula Smith, Lekbir Baala, Jéléna Martinovic, Davina Clavering, Rizwana Shaffiq, Catherine Ozilou, Andrew Cullinane, Mira Kyttälä, Stavit Shalev, Sophie Audollent, Camille d’Humières, Noman Kadhom, Chantal Esculpavit, Géraldine Viot, Claire Boone, Christine Oien, Férechté Encha-Razavi, Philip A Batman, Christopher P Bennett11, C Geoffrey Woods, Joelle Roume, Stanislas Lyonnet, Emmanuelle Génin, Martine Le Merrer, Arnold Munnich, Marie-Claire Gubler, Phillip Cox, Fiona Macdonald, Michel Vekemans, Colin A. Johnson, Tania Attié-Bitach, and the SOFFOET (Société Française de Foetopathologie)
Received October 6, 2006; accepted January 29, 2007.
Online Citation: Human Mutation , Mutation in Brief #960(2007)Online
Mutational Analysis of the HGSNAT Gene in Italian Patients With Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Anthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, Giovanna Sersale, Torben Lübke, Paola di Natale, Maria Pia Cosma, and Andrea Ballabio
Received November 30, 2006; accepted February 2, 2007.
Online Citation: Human Mutation , Mutation in Brief #959(2007)Online
Novel SLC4A11 Mutations in Patients With Recessive Congenital Hereditary Endothelial Dystrophy (CHED2)
Vedam L. Ramprasad, Neil D. Ebenezer, Tin Aung, Rama Rajagopal, Victor H. K. Yong, Stephen J. Tuft, Deepa Viswanathan, Mohamed F. El-Ashry, Petra Liskova, Donald T.H. Tan, Shomi S. Bhattacharya, Govindasamy Kumaramanickavel, and Eranga N. Vithana
Received October 12, 2006; accepted January 18, 2007.
Online Citation: Human Mutation , Mutation in Brief #958(2007)Online
The Novel p.L1649Q Mutation in the SCN1A Epilepsy Gene Is Associated With Familial Hemiplegic Migraine: Genetic and Functional Studies
Kaate R. J. Vanmolkot, Elena Babini, Boukje de Vries, Anine H. Stam, Tobias Freilinger, Gisela M. Terwindt, Lisa Norris, Joost Haan, Rune R. Frants, Nabih M. Ramadan, Michel D. Ferrari, Michael Pusch, Arn M. J. M. van den Maagdenberg, and Martin Dichgans
Received October 7, 2006; accepted December 30, 2006.
Online Citation: Human Mutation , Mutation in Brief #957(2007)Online
Spectrum of NPHP6/CEP290 Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype
Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, Sylvie Gerber, Jean-Louis Dufier, Olivier Roche, Sabine Defoort-Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Munnich, Josseline Kaplan, and Jean-Michel Rozet
Received September 8, 2006; accepted January 9, 2007.
Online Citation: Human Mutation , Mutation in Brief #956(2007)Online
Mutations Other Than Null Mutations Producing a Pathogenic Loss of Progranulin in Frontotemporal Dementia
Julie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, Sebastiaan Engelborghs, Ilse Gijselinck, Agnès Camuzat, Nathalie Brouwers, Rik Vandenberghe, Kristel Sleegers, Didier Hannequin, Bart Dermaut, Joost Schymkowitz, Dominique Campion, Patrick Santens, Jean-Jacques Martin, Lucette Lacomblez, Tim De Pooter, Karin Peeters, Maria Mattheijssens, Martine Vercelletto, Marleen Van den Broeck, Marc Cruts, Peter P. De Deyn, Frederic Rousseau, Alexis Brice, and Christine Van Broeckhoven
Received November 12, 2006; accepted January 19, 2007.
Online Citation: Human Mutation , Mutation in Brief #955(2007)Online
Genotype-Phenotype Correlations of KCNJ2 Mutations in Japanese Patients With Andersen-Tawil Syndrome
Yoshisumi Haruna, Atsushi Kobori, Takeru Makiyama, Hidetada Yoshida, Masaharu Akao, Takahiro Doi, Keiko Tsuji, Seiko Ono, Yukiko Nishio, Wataru Shimizu, Takehiko Inoue, Tomoaki Murakami, Naoya Tsuboi, Hideo Yamanouchi, Hiroya Ushinohama, Yoshihide Nakamura, Masao Yoshinaga, Hitoshi Horigome, Yoshifusa Aizawa, Toru Kita, and Minoru Horie
Received January 30, 2006; accepted December 19, 2006.
Online Citation: Human Mutation , Mutation in Brief #954(2007)Online
Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium
Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanne G.M. Frints, Guy Froyen, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, Laetitia Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gecz, Andreas W. Kuss, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers, and Ben C.J. Hamel
Received August 16, 2006; accepted November 28, 2006.
Online Citation: Human Mutation , Mutation in Brief #953(2007)Online
Low Proportion of Whole Exon Deletions Causing Phenylketonuria in Denmark and Germany
Lisbeth Birk Møller, Anders O.H. Nygren, Patrick Scott, Pia Hougaard, Jytte Bieber Nielsen, Caroline Hartmann, Flemming Güttler, Linda Tyfield, and Johannes Zschocke
Received June 30, 2006; accepted November 10, 2006.
Online Citation: Human Mutation , Mutation in Brief #952(2007)Online
MID1 Mutation Screening in a Large Cohort of Opitz G/BBB Syndrome Patients: Twenty-nine Novel Mutations Identified
Rosa Ferrentino, Maria Teresa Bassi, David Chitayat, Elisabetta Tabolacci, and Germana Meroni
Received August 30, 2006; accepted October 26, 2006.
Online Citation: Human Mutation , Mutation in Brief #951(2007)Online
HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations: 2007 Update
Belinda Giardine, Sjozef van Baal, Polynikis Kaimakis, Cathy Riemer, Webb Miller, Maria Samara, Panagoula Kollia, Nicholas P. Anagnou, David H. K. Chui, Henri Wajcman, Ross C. Hardison, and George P. Patrinos
Received August 10, 2006; accepted October 31, 2006.
Online Citation: Human Mutation , Database in Brief #950(2007)Online
Incidence and Clinical Features of X-linked Cornelia de Lange Syndrome Due to SMC1L1 Mutations
Guntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, Arnold Munnich, Valérie Cormier-Daire, and Laurence Colleaux
Received August 22, 2006; accepted October 23, 2006.
Online Citation: Human Mutation , Mutation in Brief #949(2007)Online
Deletion of Exon 16 of the Dystrophin Gene Is Not Associated With Disease
Marianne Schwartz, Morten Dunø, Anne Lise Palle, Thomas Krag, and John Vissing
Received June 22, 2006; accepted October 17, 2006.
Online Citation: Human Mutation , Mutation in Brief #948(2007)Online
Townes-Brocks Syndrome: Twenty Novel SALL1 Mutations in Sporadic and Familial Cases and Refinement of the SALL1 Hot Spot Region
Elke M. Botzenhart, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matthew A. Deardorff, Jean-Pierre Fryns, Sandrine Marlin, Sixto Garcia-Minaur, Yorck Hellenbroich, Beverly N. Hay, Maila Penttinen, Vandana Shashi, Paulien Terhal, Lionel Van Maldergem, Margo L. Whiteford, Elaine Zackai, and Jürgen Kohlhase
Received July 26, 2006; accepted September 25, 2006.
Online Citation: Human Mutation , Mutation in Brief #947(2007)Online
GM1 Gangliosidosis: Molecular Analysis of Nine Patients and Development of an RT-PCR Assay for GLB1 Gene Expression Profiling
Anna Caciotti, Maria Alice Donati, Elena Procopio, Mirella Filocamo, Wim Kleijer, Wim Wuyts, Bettina Blaumeiser, Alessandra d’Azzo, Lisa Simi, Claudio Orlando, Fiona McKenzie, Agata Fiumara, Enrico Zammarchi, and Amelia Morrone
Received July 12, 2006; accepted September 21, 2006.
Online Citation: Human Mutation , Mutation in Brief #946(2007)Online
A Proposed Molecular Diagnostic Flowchart for Myophosphorylase Deficiency (McArdle Disease) in Blood Samples from Spanish Patients
Juan C. Rubio, Ines Garcia-Consuegra, Gisela Nogales-Gadea, Alberto Blazquez, Ana Cabello, Alejandro Lucia, Antoni L. Andreu, Joaquin Arenas, and Miguel A. Martin
Received April 21, 2006; accepted August 16, 2006.
Online Citation: Human Mutation , Mutation in Brief #945(2007)Online
Identification of Seven Novel Germline Mutations in the Human E-Cadherin ( CDH1 ) Gene
H. More, B. Humar, W. Weber, R. Ward, A. Christian, C. Lintott, F. Graziano, A-M. Ruzzo, E. Acosta, B. Boman, M. Harlan, P. Ferreira, R. Seruca, G. Suriano, and P. Guilford
Received May 22, 2006; accepted September 11, 2006.
Online Citation: Human Mutation , Mutation in Brief #944(2007)Online
Whole Gene Deletion and Splicing Mutations Expand the PINK1 Genotypic Spectrum
Roberta Marongiu, Francesco Brancati, Angelo Antonini, Tamara Ialongo, Cateri