Human Mutation

Cover image for Vol. 38 Issue 2

Edited By: Garry R. Cutting

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Online ISSN: 1098-1004

Mutations in Brief: 2003


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

 NDP Gene Mutations in 14 French Families with Norrie Disease
Ghislaine Royer, Sylvain Hanein, Valérie Raclin, Nadine Gigarel, Jean-Michel Rozet, Arnold Munnich, Julie Steffann, Jean-Louis Dufier, Josseline Kaplan and Jean-Paul Bonnefont
Received March 31, 2003; accepted October 14, 2003.
Online Citation: Human Mutation , Mutation in Brief #675(2003) Online
Print Citation: Volume 22, Issue 6, page 499

 POLG Mutations in Sporadic Mitochondrial Disorders With Multiple mtDNA Deletions
Alessio Di Fonzo, Andreina Bordoni, Marco Crimi, Galbiati Sara, Roberto Del Bo, Nereo Bresolin, and Giacomo P. Comi
Received March 3, 2003; accepted October 9, 2003.
Online Citation: Human Mutation , Mutation in Brief #674(2003) Online
Print Citation: Volume 22, Issue 6, pages 498-499

 Mutation Screening of the C1 Inhibitor Gene Among Hungarian Patients With Hereditary Angioedema
Lajos Kalmár, András Bors, Henriette Farkas, Szilvia Vas, Barbara Fandl, Lilian Varga, György Füst, and Attila Tordai
Received August 14, 2003; accepted October 9, 2003.
Online Citation: Human Mutation , Mutation in Brief #673(2003) Online
Print Citation: Volume 22, Issue 6, page 498

 Detailed Analysis of Five Mutations in Dihydropyrimidine Dehydrogenase Detected in Cancer Patients With 5-fluorouracil-related Side Effects
Eva Gross, Tobias Ullrich, Katharina Seck, Volkmar Mueller, Maike de Wit, Christoph von Schilling, Alfons Meindl, Manfred Schmitt, and Marion Kiechle
Received April 8, 2003; accepted October 9, 2003.
Online Citation: Human Mutation , Mutation in Brief #672(2003) Online
Print Citation: Volume 22, Issue 6, page 498

 Molecular Analysis of the Glyoxylate Reductase (GRHPR) Gene and Description of Mutations Underlying Primary Hyperoxaluria Type 2
David P. Cregeen, Emma L. Williams, Sally Hulton, and Gill Rumsby
Received August 17, 2003; accepted October 8, 2003.
Online Citation: Human Mutation , Mutation in Brief #671(2003) Online
Print Citation: Volume 22, Issue 6, page 497

 Diagnostics in Patients With Glutathione Synthetase Deficiency but Without Mutations in the Exons of the GSS Gene
Runa Njålsson, Katarina Carlsson, Andreas Winkler, Agne Larsson, and Svante Norgren
Received June 10, 2003; accepted September 25, 2003.
Online Citation: Human Mutation , Mutation in Brief #670(2003) Online
Print Citation: Volume 22, Issue 6, page 497

 A Pathogenic Glutamate-to-Aspartate Substitution (D296E) in the Pyruvate Dehydrogenase E1 Subunit Gene PDHA
R.M. Brown, R.A. Head, I.I. Boubriak, J.V. Leonard, and G.K. Brown
Received May 15, 2003; accepted September 5, 2003.
Online Citation: Human Mutation , Mutation in Brief #669(2003) Online
Print Citation: Volume 22, Issue 6, pages 496-497

 Novel Cytochrome P450 1B1 (CYP1B1) Mutations in Patients with Primary Congenital Glaucoma in France
Evelyne Colomb, Josseline Kaplan, and Henri-Jean Garchon
Received March 27, 2003; accepted May 30, 2003.
Online Citation: Human Mutation , Mutation in Brief #668(2003) Online
Print Citation: Volume 22, Issue 6, page 496

 Erratum: Mutational Screening of the RB1 Gene in Indian Patients with Retinoblastoma Reveals Eight Novel and Several Recurrent Mutations
Velamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, Geeta K. Vemuganti, and Santosh G. Honavar
Erratum received September 19, 2003.
Online Citation: Human Mutation , Mutation in Brief #667(2003) Online
Link to original article
Print Citation: Volume 22, Issue 6, page 496

 Identification of a Frequent Variant in ALG6, the Cause of Congenital Disorder of Glycosylation-Ic
Vibeke Westphal, Ming Xiao, Pui-Yan Kwok, and Hudson H. Freeze
Received May 23, 2003; accepted September 5, 2003.
Online Citation: Human Mutation , Mutation in Brief #666(2003) Online
Print Citation: Volume 22, Issue 5, pages 420-421

 BUB1 Infrequently Mutated in Human Breast Carcinomas
Anita Langerød, Maria Strømberg, Koei Chin, Vessela N. Kristensen, and Anne-Lise Børresen-Dale
Received May 6, 2003; accepted August 26, 2003.
Online Citation: Human Mutation , Mutation in Brief #665(2003) Online
Print Citation: Volume 22, Issue 5, page 420

 Constitutional NF1 Mutations In Neurofibromatosis 1 Patients With Malignant Peripheral Nerve Sheath Tumors
Lan Kluwe, Reinhard E. Friedrich, Matthias Peiper, Jan Friedman, and Victor-F. Mautner
Received May 27, 2003; accepted August 20, 2003.
Online Citation: Human Mutation , Mutation in Brief #664(2003) Online
Print Citation: Volume 22, Issue 5, page 420

 Novel MLH1 Mutations and a Novel MSH2 Polymorphism Identified by SSCP and DHPLC in Portuguese HNPCC Families
G. Isidro, S. Matos, V. Gonçalves, C. Cavaleiro, O. Antunes, C. Marinho, J. Soares, and M.G. Boavida
Received March 24, 2003; accepted August 20, 2003.
Online Citation: Human Mutation , Mutation in Brief #663(2003) Online
Print Citation: Volume 22, Issue 5, pages 419-420

 Deletion Mapping in Alport Syndrome and Alport Syndrome-Diffuse Leiomyomatosis Reveals Potential Mechanisms of Visceral Smooth Muscle Overgrowth
Beth K. Thielen, David F. Barker, Raoul D. Nelson, Jing Zhou, Stefan M. Kren, and Yoav Segal
Received June 3, 2003; accepted August 5, 2003.
Online Citation: Human Mutation , Mutation in Brief #662(2003) Online
Print Citation: Volume 22, Issue 5, page 419

 Identification of Nine Novel Arylsulfatase A (ARSA) Gene Mutations in Patients With Metachromatic Leukodystrophy (MLD)
Barry Eng, Lisa N. Nakamura, Natasha O'Reilly, Natasha Schokman, Magorzata M.J. Nowaczyk, William Krivit, and John S. Waye
Received May 12, 2003; accepted July 31, 2003.
Online Citation: Human Mutation , Mutation in Brief #661(2003) Online
Print Citation: Volume 22, Issue 5, pages 418-419

 Ten Novel Mutations in VMD2 Associated With Best Macular Dystrophy (BMD)
Franziska Krämer, Nicole Mohr, Ulrich Kellner, Günther Rudolph, and Bernhard H.F. Weber
Received June 13, 2003; accepted September 8, 2003.
Online Citation: Human Mutation , Mutation in Brief #660(2003) Online
Print Citation: Volume 22, Issue 5, page 418

 Mutational Analysis of BRCA1 and BRCA2 in Mediterranean Spanish Women With Early-onset Breast Cancer: Identification of Three Novel Pathogenic Mutations
J.I. Martínez-Ferrandis, A. Vega, I. Chirivella, P. Marín-García, A. Insa, A. Lluch, A. Carracedo, F.J. Chaves, J. García-Conde, A. Cervantes, and M.-E. Armengod
Received May 16, 2003; accepted August 26, 2003.
Online Citation: Human Mutation , Mutation in Brief #659(2003) Online
Print Citation: Volume 22, Issue 5, pages 417-418

 Identification of Twelve Novel Mutations in Patients With Classic and Variant Forms of Maple Syrup Urine Disease
Marco Henneke, Nadine Flaschker , Christoph Helbling , Martina Müller, Peter Schadewaldt, Jutta Gärtner, and Udo Wendel
Received March 5, 2003; accepted June 5, 2003.
Online Citation: Human Mutation , Mutation in Brief #658(2003) Online
Print Citation: Volume 22, Issue 5, page 417

 Identification of 21 Novel Glucokinase (GCK) Mutations in UK and European Caucasians with Maturity-onset Diabetes of the Young (MODY)
K.L. Thomson, A.L. Gloyn, K. Colclough, M. Batten, L.I.S. Allen, F. Beards, A.T. Hattersley, and S. Ellard
Received May 15, 2003; accepted July 23, 2003.
Online Citation: Human Mutation , Mutation in Brief #657(2003) Online
Print Citation: Volume 22, Issue 5, page 417

 Erratum: Neurofibromatosis Type 1 (NF1): Identification of Eight Unreported Mutations in NF1 Gene in Italian Patients
Paola Origone, Carlo Bellini, Debora Sambarino, Barbara Banelli, Guido Morcaldi, Carmen La Rosa, Franco Stanzial, Claudio Castellan, Domenico A. Coviello, Cecilia Garrè, and Eugenio Bonioli
Received July 23, 2003; accepted July 23, 2003.
Online Citation: Human Mutation , Mutation in Brief #656(2003) Online
Link to original article
Print Citation: Volume 22, Issue 4, page 341

 Structural Organization of the Human Carbamyl Phosphate Synthetase I Gene (CPS1) and Identification of Two Novel Genetic Lesions
S. Funghini, M.A. Donati, E. Pasquini, E. Zammarchi, and A. Morrone
Received May 22, 2003; accepted August 13, 2003.
Online Citation: Human Mutation , Mutation in Brief #655(2003) Online
Print Citation: Volume 22, Issue 4, page 340-341

 CFTR Genotypes in Patients with Normal or Borderline Sweat Chloride Levels
Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicole Monnier, Jean-Paul Bonnefont, Albert Iron, Eric Bieth, Viviane Dumur, Christine Clavel, Cécile Cazeneuve, and Emmanuelle Girodon
Received April 17, 2003; accepted July 24, 2003.
Online Citation: Human Mutation , Mutation in Brief #654(2003) Online
Print Citation: Volume 22, Issue 4, page 340

 The E148Q MEFV Allele Is Not Implicated in the Development of Familial Mediterranean Fever
Dimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, Andrée Delahaye, Florence Niel, and Serge Amselem
Received May 15, 2003; accepted July 16, 2003.
Online Citation: Human Mutation , Mutation in Brief #653(2003) Online
Print Citation: Volume 22, Issue 4, pages 339-340

 Mutational Screening of the RB1 Gene in Indian Patients with Retinoblastoma Reveals Eight Novel and Several Recurrent Mutations
Velamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, Geeta K. Vemuganti, and Santosh G. Honavar
Received May 15, 2003; accepted July 16, 2003.
Online Citation: Human Mutation , Mutation in Brief #652(2003) Online
Link to erratum
Print Citation: Volume 22, Issue 4, page 339

 Spectrum of FANCA Mutations in Italian Fanconi Anemia Patients: Identification of Six Novel Alleles and Phenotypic Characterization of the S858R Variant
Maria Savino, Adriana Borriello, Maria d’Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante, Hans Joenje, Fulvio Della Ragione, and Anna Savoia
Received June 5, 2003; accepted July 15, 2003.
Online Citation: Human Mutation , Mutation in Brief #651(2003) Online
Print Citation: Volume 22, Issue 4, pages 338-339

 Identification of Eight Novel Glucokinase Mutations in Italian Children with Maturity-Onset Diabetes of the Young
Vilma Mantovani, Silvana Salardi, Vincenzo Cerreta, Daniela Bastia, Marinella Cenci, Luca Ragni, Stefano Zucchini, Raffaele Parente, and Alessandro Cicognani
Received March 19, 2003; accepted July 14, 2003.
Online Citation: Human Mutation , Mutation in Brief #650(2003) Online
Print Citation: Volume 22, Issue 4, page 338

 Mutation Spectrum of Human SLC39A4 in a Panel of Patients With Acrodermatitis Enteropathica
Sébastien Küry, Monia Kharfi, Ridha Kamoun, Alain Taïeb, Eric Mallet, Jean-Jacques Baudon, Catherine Glastre, Bruno Michel, Francis Sebag, David Brooks, Volker Schuster, Catherine Scoul, Brigitte Dréno, Stéphane Bézieau, and Jean-Paul Moisan
Received April 16, 2003; accepted June 30, 2003.
Online Citation: Human Mutation , Mutation in Brief #649(2003) Online
Print Citation: Volume 22, Issue 4, pages 337-338

 Mutational Analysis of the AGL Gene: Five Novel Mutations in GSD III Patients
S. Lucchiari, M.A. Donati, D. Melis, M. Filocamo, R. Parini, N. Bresolin, and G.P. Comi
Received March 28, 2003; accepted June 2, 2003.
Online Citation: Human Mutation , Mutation in Brief #648(2003) Online
Print Citation: Volume 22, Issue 4, page 337

 RNA Analysis of Eight BRCA1 and BRCA2 Unclassified Variants Identified in Breast/Ovarian Cancer Families from Spain
Berta Campos, Orland Díez, Montserrat Domènech, Manel Baena, Judith Balmaña, Judit Sanz, Amaya Ramírez, Carmen Alonso, and Montserrat Baiget
Received January 22, 2003; accepted June 10, 2003.
Online Citation: Human Mutation , Mutation in Brief #647(2003) Online
Print Citation: Volume 22, Issue 4, page 337

 Five Novel Inactivating Mutations in the Thyroid Peroxidase Gene Responsible for Congenital Goiter and Iodide Organification Defect
Carina M. Rivolta, Sebastián A. Esperante, Laura Gruñeiro-Papendieck, Ana Chiesa, Christian M. Moya, Sabina Domené, Viviana Varela, and Héctor M. Targovnik
Received May 14, 2003; accepted July 11, 2003.
Online Citation: Human Mutation , Mutation in Brief #646(2003) Online
Print Citation: Volume 22, Issue 3, pages 259-260

 Twenty-three Novel BRCA1 and BRCA2 Sequence Alterations in Breast and/or Ovarian Cancer Families in Southern Germany
Peter Meyer, Theda Voigtlaender, Claus R. Bartram, and Ruediger Klaes
Received March 28, 2003; accepted July 10, 2003.
Online Citation: Human Mutation , Mutation in Brief #645(2003) Online
Print Citation: Volume 22, Issue 3, page 259

 CFTR Mutations in Patients from Colombia: Implications for Local and Regional Molecular Diagnosis Programs
Genoveva Keyeux, Clemencia Rodas, Thierry Bienvenu, Pilar Garavito, Dominique Vidaud, Dora Sanchez, Jean-Claude Kaplan, and Gustavo Aristizábal
Received March 19, 2003; accepted July 2, 2003.
Online Citation: Human Mutation , Mutation in Brief #644(2003) Online
Print Citation: Volume 22, Issue 3, page 259

 Molecular Analysis in Fabry Disease in Spain: Fifteen Novel GLA Mutations and Identification of a Homozygous Female
Adriana Rodríguez-Marí, M. José Coll, and Amparo Chabás
Received February 5, 2003; accepted June 24, 2003.
Online Citation: Human Mutation , Mutation in Brief #643(2003) Online
Print Citation: Volume 22, Issue 3, page 258

 Identification and Characterization of Genomic Rearrangements of MSH2 and MLH1 in Lynch Syndrome (HNPCC) by Novel Techniques
Hidewaki Nakagawa, Heather Hampel, and Albert de la Chapelle
Received May 9, 2003; accepted June 4, 2003.
Online Citation: Human Mutation , Mutation in Brief #642(2003) Online
Print Citation: Volume 22, Issue 3, page 258

 Identification of Novel Variants in Transforming Growth Factor-Beta 1 (TGFB1) Gene and Association Analysis with Bone Mineral Density
Byung Lae Park, In Kwon Han, Ho Sa Lee, Lyoung Hyo Kim, Sa Jin Kim, and Hyoung Doo Shin
Received January 17, 2003; accepted April 25, 2003.
Online Citation: Human Mutation , Mutation in Brief #641(2003) Online
Print Citation: Volume 22, Issue 3, pages 257-258

 Association Analysis of Novel TBX21 Variants With Asthma Phenotypes
Hun Taek Chung, Lyoung Hyo Kim, Byung Lae Park, June Hyuk Lee, Hae-Sim Park, Byoung Whui Choi, Soo-Jong Hong, Soo Cheon Chae, Jeong Joong Kim, Choon-Sik Park, and Hyoung Doo Shin
Received January 25, 2003; accepted April 28, 2003.
Online Citation: Human Mutation , Mutation in Brief #640(2003) Online
Print Citation: Volume 22, Issue 3, page 257

 Polymorphisms in Fatty Acid-Binding Protein-3 (FABP3) - Putative Association with Type 2 Diabetes Mellitus
Hyoung Doo Shin, Lyoung Hyo Kim, Byung Lae Park, Hye Seung Jung, Young Min Cho, Min Kyong Moon, Hong Kyu Lee, and Kyong Soo Park
Received March 3, 2003; accepted May 9, 2003.
Online Citation: Human Mutation , Mutation in Brief #639(2003) Online
Print Citation: Volume 22, Issue 2, page 180

 The 342-kb Deletion in GJB6 is not Present in Patients With Non-Syndromic Hearing Loss from Austria
Barbara Günther, Andrea Steiner, Doris Nekahm-Heis, Klaus Albegger, Patrick Zorowka, Gerd Utermann, and Andreas Janecke
Received February 12, 2003; accepted April 11, 2003.
Online Citation: Human Mutation , Mutation in Brief #638(2003) Online
Print Citation: Volume 22, Issue 2, page 180

 Neurofibromatosis Eurofibromatosis Type 1 (NF1): Identification of Eight Unreported Mutations in NF1 Gene in Italian Patients
Paola Origone, Carlo Bellini, Debora Sambarino, Barbara Banelli , Guido Morcaldi, Carmen La Rosa, Franco Stanzial, Claudio Castellan, Domenico A. Coviello, Cecilia Garrè , and Eugenio Bonioli
Received February 20, 2003; accepted May 4, 2003.
Online Citation: Human Mutation , Mutation in Brief #637(2003) Online
Link to original article
Print Citation: Volume 22, Issue 2, page 179-180

 Myocilin Analysis by DHPLC in French POAG Patients: Increased Prevalence of Q368X Mutation
Rahma Melki, Ahmed Belmouden, Antoine Brézin, and Henri-Jean Garchon
Received February 26, 2003; accepted April 21, 2003.
Online Citation: Human Mutation , Mutation in Brief #636(2003) Online
Print Citation: Volume 22, Issue 2, page 179

 BRCA1 and BRCA2 Mutations in Breast/Ovarian Cancer Patients from Central Italy
L. Stuppia, P. Di Fulvio, G. Aceto, S. Pintor, S. Veschi , V. Gatta, A. Colosimo, E. Cianchetti, A. Cama, R. Mariani-Costantini, P. Battista, and G. Palka
Received December 16, 2002; accepted April 14, 2003.
Online Citation: Human Mutation , Mutation in Brief #635(2003) Online
Print Citation: Volume 22, Issue 2, page 178-179

 Four Novel Mutations in APOB Causing Heterozygous and Homozygous Familial Hypobetalipoproteinemia
A.J. Whitfield, A.D. Marais, K. Robertson, P.H.R. Barrett, F.M. van Bockxmeer, and J.R. Burnett
Received February 4, 2003; accepted May 7, 2003.
Online Citation: Human Mutation , Mutation in Brief #634(2003) Online
Print Citation: Volume 22, Issue 2, page 178

 Founder Mutation in the BRCA1 Gene in Malay Breast Cancer Patients From Singapore
Ann S.G. Lee, G.H. Ho, P.C. Oh, C. Balram, L.L. Ooi, D.T.H. Lim, C.Y. Wong, and G.S. Hong
Received November 7, 2002; accepted April 11, 2003.
Online Citation: Human Mutation , Mutation in Brief #633(2003) Online
Print Citation: Volume 22, Issue 2, page 178

 Novel Intronic Polymorphisms in the RET Proto-oncogene and Their Association With Hirschsprung Disease
Guido Fitze, Mandy Schierz, Eberhard Kuhlisch, Matthias Schreiber, Andreas Ziegler, Dietmar Roesner, and Hans K. Schackert
Received February 5, 2003; accepted April 10, 2003.
Online Citation: Human Mutation , Mutation in Brief #632(2003) Online
Print Citation: Volume 22, Issue 2, page 177

 Detection of Mitochondrial DNA Mutations in Gestational Trophoblastic Disease
Pui Man Chiu, Vincent W. S. Liu, Hextan Y. S. Ngan, Ui Soon Khoo, and Annie N. Y. Cheung
Received November 19, 2002; accepted March 7, 2003.
Online Citation: Human Mutation , Mutation in Brief #631(2003) Online
Print Citation: Volume 22, Issue 2, page 177

 Severe Hypophosphatasia: Characterization of Fifteen Novel Mutations in the ALPL Gene
M. Spentchian, Y. Merrien1, M. Herasse, Z. Dobbie, D. Gläser, S. E. Holder, S-A. Ivarsson, D. Kostiner, S. Mansour, A. Norman, J. Roth, F. Stipoljev, J-L. Taillemite, J. J. van der Smagt, J-L. Serre, B. Simon-Bouy, A. Taillandier, and E. Mornet
Received August 22, 2002; accepted November 18, 2002.
Online Citation: Human Mutation , Mutation in Brief #630(2003) Online
Print Citation: Volume 22, Issue 1, pages 105-106

 Comparison of the CFTR Mutation Spectrum in Three Cohorts of Patients of Celtic Origin from Brittany (France) and Ireland
Virginie Scotet, David E. Barton, James B.G. Watson, Marie-Pierre Audrézet, Trudi McDevitt, Shirley McQuaid, Cathy Shortt, Marc De Braekeleer, Claude Férec, and Cédric Le Maréchal
Received March 12, 2003; accepted April 18, 2003.
Online Citation: Human Mutation , Mutation in Brief #629(2003) Online
Print Citation: Volume 22, Issue 1, page 105

 Prion Susceptibility and Protective Alleles Exhibit Marked Geographic Differences
Marta Soldevila, Francesc Calafell, Aida M.Andrés, Jordi Yagüe, Agnar Helgason, Kári Stefánsson, and Jaume Bertranpetit
Received March 25, 2003; accepted April 11, 2003.
Online Citation: Human Mutation , Mutation in Brief #628(2003) Online
Print Citation: Volume 22, Issue 1, pages 105-106

 The Analysis of BRCA1 Mutations in Eastern Chinese Patients with Early Onset Breast Cancer and Affected Relatives
Zhen Hu, Jiong Wu, Can-Hui Liu, Jing-Song Lu, Jian-Ming Luo, Qi-Xia Han, Zhen-Zhou Shen, and Zhi-Ming Shao
Received January 9, 2003; accepted April 11, 2003.
Online Citation: Human Mutation , Mutation in Brief #627(2003) Online

 Six Novel Mutations of the RUNX2 Gene in Italian Patients with Cleidocranial Dysplasia
Alessandra Tessa, Sergio Salvi, Carlo Casali, Livia Garavelli, M. Cristina Digilio, M. Teresa Dotti, Silvia Di Giandomenico, Manuela Valoppi, Gaetano S. Grieco, Giovanna Comanducci, Giacomo Bianchini, Daniela Fortini, Antonio Federico, Aldo Giannotti, and Filippo M. Santorelli
Received January 19, 2003; accepted April 9, 2003.
Online Citation: Human Mutation , Mutation in Brief #626(2003) Online

 Screening for Large Rearrangements of the BRCA1 Gene in German Breast or Ovarian Cancer Families using Semi-quantitative Multiplex PCR Method
Wera Hofmann, Heike Görgens, Anika John, Denise Horn, Christine Hüttner, Norbert Arnold, Siegfried Scherneck, and Hans K. Schackert
Received March 12, 2003; accepted April 7, 2003.
Online Citation: Human Mutation , Mutation in Brief #625(2003) Online

 Spectrum of CBS Mutations in 16 Homocystinuric Patients from the Iberian Peninsula: High Prevalence of T191M and Absence of I278T or G307S
Roser Urreizti, Susana Balcells, Marga Rodés, Laura Vilarinho, Antonio Baldellou, María Luz Couce, Carmen Muñoz, Jaume Campistol, Xavier Pintó, María Antonia Vilaseca, and Daniel Grinberg
Received February 10, 2003; accepted March 7, 2003.
Online Citation: Human Mutation , Mutation in Brief #624(2003) Online

 Fourteen Novel OPA1 Mutations in Autosomal Dominant Optic Atrophy Including Two De Novo Mutations in Sporadic Optic Atrophy

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