Human Mutation

Cover image for Vol. 38 Issue 2

Edited By: Garry R. Cutting

Impact Factor: 5.089

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Online ISSN: 1098-1004

Mutations in Brief: 2002


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

Hermansky-Pudlak Syndrome Type 1: Gene Organization, Novel Mutations, and Clinical-Molecular Review of Non-Puerto Rican Cases
Christina R. Hermos, Marjan Huizing, Muriel I. Kaiser-Kupfer, and William A. Gahl
Received September 26, 2002; accepted October 14, 2002
Online Citation: Human Mutation , Mutation in Brief #568(2002) Online
Print Citation: Volume 20, Issue 6, page 482

Missense Mutations in the Extracellular Domain of the Human Neural Cell Adhesion Molecule L1 Reduce Neurite Outgrowth of Murine Cerebellar Neurons
Piret Michelson, Christine Hartwig, Melitta Schachner, Andreas Gal, Andres Veske, Ulrich Finckh
Received July 26, 2002; accepted October 11, 2002
Online Citation: Human Mutation , Mutation in Brief #567(2002) Online
Print Citation: Volume 20, Issue 6, pages 481-482

DHPLC Mutation Analysis of Jagged1 (JAG1) Reveals Six Novel Mutations in Australian Alagille Syndrome Patients
Mandy L. Heritage, John C. MacMillan, and Gregory J. Anderson
Received March 25, 2002; accepted September 26, 2002
Online Citation: Human Mutation , Mutation in Brief #566(2002) Online
Print Citation: Volume 20, Issue 6, page 481

Novel Insertions of Bruton Tyrosine Kinase in Patients with X-linked Agammaglobulinemia
Michael P. Okoh, Leena Kainulainen, Kaarina Heiskanen, M. Nizam Isa, Kim Varming, Olli Ruuskanen, and Mauno Vihinen
Received June 28, 2002; accepted October 4, 2002
Online Citation: Human Mutation , Mutation in Brief #565(2002) Online
Print Citation: Volume 20, Issue 6, pages 480-481

Molecular Characterisation of GSD III Subjects and Identification of Six Novel Mutations in AGL
S. Lucchiari, M.A. Donati, R. Parini, D. Melis, R. Gatti, N. Bresolin, G. Scarlato, and G.P. Comi
Received May 17, 2002; accepted October 2, 2002
Online Citation: Human Mutation , Mutation in Brief #564(2002) Online
Print Citation: Volume 20, Issue 6, page 480

Novel Mutations in the MYOC/GLC1A Gene in a Large Group of Glaucoma Patients
Karin Michels-Rautenstrauss, Christian Mardin, Nina Wakili, Anselm M Jünemann, Luis Villalobos, Carlos Mejia, Gabriela Chavarria Soley, Jorge Azofeifa, Sevinc Özbey, Gottfried OH Naumann, Andre Reis, and Bernd Rautenstrauss
Received August 8, 2002; accepted October 1, 2002
Online Citation: Human Mutation , Mutation in Brief #563(2002) Online
Print Citation: Volume 20, Issue 6, pages 479-480

Determination of b2-Adrenergic Receptor (ADRB2) Haplotypes by a Multiplexed Polymerase Chain Reaction Assay
Mathew D. Littlejohn, D. Robin Taylor, Allison L. Miller, and Martin A. Kennedy
Received June 4, 2002; accepted September 25, 2002
Online Citation: Human Mutation , Mutation in Brief #562(2002) Online
Print Citation: Volume 20, Issue 6, page 479

GCK and HNF1A Mutations in Canadian Families With Maturity Onset Diabetes of the Young (MODY)
Henian Cao, Sanam Shorey, John Robinson, Daniel L. Metzger, Laura Stewart, Elizabeth Cummings, and Robert A. Hegele
Received August 8, 2002; accepted September 24, 2002
Online Citation: Human Mutation , Mutation in Brief #561(2002) Online
Print Citation: Volume 20, Issue 6, pages 478-479

A Common Haplotype for the 677T Thermolabile Variant of the 5,10-Methylenetetrahydrofolate Reductase Gene in Thrombophilic Patients and Controls
M. Linnebank, A. Homberger, U. Nowak-Göttl, and H. G. Koch
Received April 15, 2002; accepted September 19, 2002
Online Citation: Human Mutation , Mutation in Brief #560(2002) Online
Print Citation: Volume 20, Issue 6, page 478

Molecular Analysis of Turkish Mucopolysaccharidosis IVA (Morquio A) Patients: Identification of Novel Mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) Gene
Mugen Terzioglu, Aysegul Tokatli, Turgay Coskun, and Serap Emre
Received August 9, 2002; accepted September 18, 2002
Online Citation: Human Mutation , Mutation in Brief #559(2002) Online
Print Citation: Volume 20, Issue 6, pages 477-478

A Double Mutant [N543H 2393del9] Allele in the LDL Receptor Gene in Familial Hypercholesterolemia: Effect on Plasma Cholesterol Levels and Cardiovascular Disease
S. Castillo, G. Reyes, D. Tejedor, P. Mozas, Y. Suarez, M.A. Lasuncion, A. Cenarro, F. Civeira, R. Alonso, P. Mata, and M. Pocovi on behalf of the Spanish Group of FH
Received July 30, 2002; accepted September 18, 2002
Online Citation: Human Mutation , Mutation in Brief #558(2002) Online
Print Citation: Volume 20, Issue 6, page 477

Analysis of ABCA4 in Mixed Spanish Families Segregating Different Retinal Dystrophies
Eva Paloma, Rosa Coco, Amalia Martínez-Mir, Lluïsa Vilageliu, Susana Balcells, and Roser Gonzàlez-Duarte
Received July 26, 2002; accepted September 18, 2002
Online Citation: Human Mutation , Mutation in Brief #557(2002) Online
Print Citation: Volume 20, Issue 6, page 476

KCNQ1 and KCNH2 Mutations Associated with Long QT Syndrome in a Chinese Population
Wenling Liu, Junguo Yang, Dayi Hu, Cailian Kang, Cuilan Li, Shuoyan Zhang, Ping Li, Zhijian Chen, Xuguang Qin, Kang Ying, Yuntian Li, Yushu Li, Zhiming Li, Xin Cheng, Lei Li, Yu Qi, Shenghan Chen, and Qing Wang
Received July 1, 2002; accepted September 12, 2002
Online Citation: Human Mutation , Mutation in Brief #556(2002) Online
Print Citation: Volume 20, Issue 6, pages 475-476

BRCA1 and BRCA2 Mutation Analysis of Early-Onset and Familial Breast Cancer Cases in Mexico
Pablo Ruiz-Flores, Olga M. Sinilnikova, Michael Badzioch, A. L. Calderon-Garcidueñas, Sandrine Chopin, Odefrey Fabrice, J. F. González-Guerrero, Csilla Szabo, Gilbert Lenoir, David E. Goldgar, and Hugo A. Barrera-Saldaña
Received January 10, 2002; accepted September 6, 2002
Online Citation: Human Mutation , Mutation in Brief #555(2002) Online
Print Citation: Volume 20, Issue 6, pages 474-475

BRCA1 and BRCA2 Sequence Variants in Chinese Breast Cancer Families
Xiangcheng Zhi, Csilla Szabo, Sandrine Chopin, Nicola Suter, Qing-Sheng Wang, Elaine A. Ostrander, Olga M. Sinilnikova, Gilbert M. Lenoir, David Goldgar, and Yu-Rong Shi
Received January 23, 2002; accepted September 3, 2002
Online Citation: Human Mutation , Mutation in Brief #554(2002) Online
Print Citation: Volume 20, Issue 6, page 474

BRCA1 and BRCA2 in Indian Breast Cancer Patients
Sunita Saxena, Csilla I. Szabo, Sandrine Chopin, Laure Barjhoux, Olga Sinilnikova, Gilbert Lenoir, David E. Goldgar, and Dinesh Bhatanager
Received January 10, 2002; accepted September 3, 2002
Online Citation: Human Mutation , Mutation in Brief #553(2002) Online
Print Citation: Volume 20, Issue 6, pages 473-474

D90A-SOD1 Mediated Amyotrophic Lateral Sclerosis: A Single Founder for All Cases With Evidence for a Cis-acting Disease Modifier in the Recessive Haplotype
Matthew J. Parton, Wendy Broom, Peter M. Andersen, Ammar Al-Chalabi, P. Nigel Leigh, John F. Powell, and Christopher E. Shaw for the D90A SOD1 ALS Consortium
Received August 9, 2002; accepted August 27, 2002
Online Citation: Human Mutation , Mutation in Brief #552(2002) Online
Print Citation: Volume 20, Issue 6, page 473

Cyclooxygenase 1 (COX1) Polymorphisms in African-American and Caucasian Populations
Cornelia M Ulrich, Jeannette Bigler, Justin Sibert, Elizabeth A Greene, Rachel Sparks, Christopher S Carlson, and John D Potter
Received June 25, 2002; Accepted September 11, 2002
Online Citation: Human Mutation , Mutation in Brief #551(2002) Online
Print Citation: Volume 20, Issue 5, pages 409-410

A Collection of 33 Novel Human mtDNA Homoplasmic Variants
Marco Crimi, Monica Sciacco, Sara Galbiati, Andreina Bordoni, Giulia Malferrari, Roberto Del Bo, Ida Biunno, Nereo Bresolin, and Giacomo P. Comi
Received May 17, 2002; Accepted September 9, 2002
Online Citation: Human Mutation , Mutation in Brief #550(2002) Online
Print Citation: Volume 20, Issue 5, page 409

Novel O6-Methylguanine-DNA Methyltransferase SNPs: A Frequency Comparison of Patients With Familial Melanoma and Healthy Individuals in Sweden
S. Egyházi, S. Ma, K. Smoczynski, J. Hansson, A. Platz, and U. Ringborg
Received July 3, 2002; Accepted September 5, 2002
Online Citation: Human Mutation , Mutation in Brief #549(2002) Online
Print Citation: Volume 20, Issue 5, pages 408-409

Loss of Heterozygosity and Mutations Are the Major Mechanisms of RB1 Gene Inactivation in Chinese With Sporadic Retinoblastoma
Kwong Wai Choy, Chi Pui Pang, Christopher B.O. Yu, Hing Lok Wong, Joan S.K. Ng, Dorothy S.P. Fan, Kwok Wai Lo, Joshua T.Y. Chai, Jianhua Wang, Weiling Fu, and Dennis S.C. Lam
Received August 1, 2002; Accepted September 3, 2002
Online Citation: Human Mutation , Mutation in Brief #548(2002) Online
Print Citation: Volume 20, Issue 5, page 408

H Intragenic Polymorphisms and Haplotype Analysis in the Ornithine Transcarbamylase (OTC) Gene and Their Relevance For Tracking the Inheritance of OTC Deficiency
Consuelo Climent and Vicente Rubio
Received March 14, 2002; Accepted September 3, 2002
Online Citation: Human Mutation , Mutation in Brief #547(2002) Online
Print Citation: Volume 20, Issue 5, pages 407-408

Mutation Screening of the Fibrillin-1 (FBN1) Gene in 76 Unrelated Patients With Marfan Syndrome or Marfanoid Features Leads to the Identification of 11 Novel and Three Previously Reported Mutations
Kathrin Rommel, Matthias Karck, Axel Haverich, Jörg Schmidtke, and Mine Arslan-Kirchner
Received June 3, 2002; Accepted September 3, 2002
Online Citation: Human Mutation , Mutation in Brief #546(2002) Online
Print Citation: Volume 20, Issue 5, pages 406-407

Molecular Studies in Mutase-deficient (MUT) Methylmalonic Aciduria: Identification of Five Novel Mutations
Heidi L. Peters, Mikhael Nefedov, Lai Wah Lee, Jose E. Abdenur, Nestor A. Chamoles, Stephen G. Kahler, and Panayiotis A. Ioannou
Received March 28, 2002; Accepted August 30, 2002
Online Citation: Human Mutation , Mutation in Brief #545(2002) Online
Print Citation: Volume 20, Issue 5, page 406

Detection of C1 Inhibitor (SERPING1/C1NH) Mutations in Exon 8 In Patients With Hereditary Angioedema: Evidence For 10 Novel Mutations
Alvaro Blanch, Olga Roche, Eduardo López-Granados, Gumersindo Fontán, and Margarita López-Trascasa
Received April 23, 2002; Accepted August 29, 2002
Online Citation: Human Mutation , Mutation in Brief #544(2002) Online
Link to erratum
Print Citation: Volume 20, Issue 5, pages 405-406

Ten Novel ORF15 Mutations Confirm Mutational Hot Spot in the RPGR Gene in European Patients with X-linked Retinitis Pigmentosa
Carsten M. Pusch, Martina Broghammer, Bernhard Jurklies, Dorothea Besch, and Felix K. Jacobi
Received April 16, 2002; Accepted August 15, 2002
Online Citation: Human Mutation , Mutation in Brief #543(2002) Online
Print Citation: Volume 20, Issue 5, page 405

Clustering of Variations and Haplotype Analysis in the Highly Variable Region of Exon 11 of BRCA1 in Chinese Women With Sporadic Breast Cancer
Yunqing Li, Sizhong Zhang, Cuiying Xiao, Zhiguang Su, YangBing Zhao, Wei Chen, and Ge Zhang
Received May 1, 2002; Accepted August 14, 2002
Online Citation: Human Mutation , Mutation in Brief #542(2002) Online
Print Citation: Volume 20, Issue 5, pages 404-405

The LDL Receptor-Related Protein (LRP1/A2MR) and Coronary Atherosclerosis - Novel Genomic Variants and Functional Consequences
Susanne Schulz, Undraga Schagdarsurengin, Petra Greiser, Gerd Birkenmeier, Ursula Müller-Werdan, Monika Hagemann, Dagmar Riemann, Karl Werdan , and Christiane Gläser
Received February 19, 2002; Accepted August 9, 2002
Online Citation: Human Mutation , Mutation in Brief #541(2002) Online
Print Citation: Volume 20, Issue 5, pages 404

MECP2 Mutations in Israel: Implications for Molecular Analysis, Genetic Counseling, and Prenatal Diagnosis in Rett Syndrome
Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman, and Avi Orr-Urtreger
Received July 8, 2002; Accepted August 9, 2002
Online Citation: Human Mutation , Mutation in Brief #540(2002) Online
Print Citation: Volume 20, Issue 4, pages 323-324

One-Step Site-Directed Mutagenesis of ATM cDNA in Large (20kb) Plasmid Constructs
Shaun P Scott, Alison Teh, Cheng Peng, and Martin F Lavin
Received June 3, 2002; Accepted August 6, 2002
Online Citation: Human Mutation , Mutation in Brief #539(2002) Online
Print Citation: Volume 20, Issue 4, page 323

Evidence of a Founder Effect for the RETGC1 (GUCY2D) 2943DelG Mutation in Leber Congenital Amaurosis Pedigrees of Finnish Origin
Sylvain Hanein, Isabelle Perrault, Päivi Olsen, Tuija Lopponen, Marja Hietala, Sylvie Gerber, Marc Jeanpierre, Fabienne Barbet, Dominique Ducroq, Sélim Hakiki, Arnold Munnich, Jean-Michel Rozet, and Josseline Kaplan
Received June 10, 2002; Accepted July 30, 2002
Online Citation: Human Mutation , Mutation in Brief #538(2002) Online
Print Citation: Volume 20, Issue 4, pages 322-323

Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene
Michèle M. Sale, Jamie E. Craig, Jacinta C. Charlesworth, Liesel M. FitzGerald, Isabel M. Hanson, Joanne L. Dickinson, Sarah J. Matthews, Veronica van Heyningen, John H. Fingert, and David A. Mackey
Received June 21, 2002; Accepted July 18, 2002
Online Citation: Human Mutation , Mutation in Brief #537(2002) Online
Print Citation: Volume 20, Issue 4, page 322

Three Novel COL4A4 Mutations Resulting in Stop Codons and Their Clinical Effects in Autosomal Recessive Alport Syndrome
Hayat Dagher, Yan Yan Wang, Rob Fassett, and Judy Savige
Received June 4, 2002; Accepted July 22, 2002
Online Citation: Human Mutation , Mutation in Brief #536(2002) Online
Print Citation: Volume 20, Issue 4, pages 321-322

ERRATUM: Identification of Fifteen Novel Mutations in the SLC12A3 Gene Encoding the Na-Cl Co-Transporter in Italian Patients with Gitelman Syndrome
Marie-Louise Syrén, Silvana Tedeschi, Laila Cesareo, Rosa Bellantuono, Giacomo Colussi, Mirella Procaccio, Anna Alì, Raffaele Domenici, Fabio Malberti, Monica Sprocati, Michele Sacco, Nunzia Miglietti, Alberto Edefonti, Fabio Sereni, Giorgio Casari, Domenico A. Coviello, and Alberto Bettinelli
Received April 5, 2001; Accepted May 1, 2002
Online Citation: Human Mutation , Mutation in Brief #535(2002) Online
Link to original article
Print Citation: Volume 20, Issue 4, page 321

Analysis of the CTNS Gene in Patients of German and Swiss Origin with Nephropathic Cystinosis
Michael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, Hans Georg Koch, Andrea Superti-Furga, Beat Steinmann, Thomas Deufel, and Erik Harms
Received May 13, 2002; Accepted July 5, 2002
Online Citation: Human Mutation , Mutation in Brief #534(2002) Online
Print Citation: Volume 20, Issue 3, page 237

Prevalence of Small Rearrangements in the Factor VIII Gene F8C Among Patients with Severe Hemophilia A
Nadja Bogdanova, Arseni Markoff, Hartmut Pollmann, Ulrike Nowak-Göttl, Roswith Eisert, Bernd Dworniczak, Antonin Eigel, and Jürgen Horst
Received June 14, 2002; Accepted July 10, 2002
Online Citation: Human Mutation , Mutation in Brief #533(2002) Online
Print Citation: Volume 20, Issue 3, pages 236-237

Occurrence of Deletion of a COL2A1 Allele As the Mutation in Stickler Syndrome Shows That a Collagen Type II Dosage Effect Underlies This Syndrome
Annemarie H. van der Hout, Edwin Verlind, Frits A. Beemer, Charles H.C.M. Buys, Robert M. W. Hofstra, and Hans Scheffer
Received April 18, 2002; Accepted July 1, 2002
Online Citation: Human Mutation , Mutation in Brief #532(2002) Online
Print Citation: Volume 20, Issue 3, page 236

Identification of Mutations of Bruton's Tyrosine Kinase Gene (BTK) in Brazilian Patients with X-Linked Agammaglobulinemia
Sergio Massayuki Tani, Yue Wang, Hirokazu Kanegane, Takeshi Futatani, Jorge Pinto, Maria Marluce dos Santos Vilela, and Toshio Miyawaki
Received April 12, 2002; Accepted June 28, 2002
Online Citation: Human Mutation , Mutation in Brief #531(2002) Online
Print Citation: Volume 20, Issue 3, pages 235-236

Germline Mutations of BRCA1 and BRCA2 in Korean Breast and/or Ovarian Cancer Families
Hio Chung Kang, Il-Jin Kim, Jae-Hyun Park, Hyuk-Jun Kwon, Yong-Jin Won, Seung Chul Heo, Sang-Yon Lee, Kyung-Hee Kim, Yong Shin, Dong Young Noh, Dae-Hyun Yang, Kuk Jin Choe, Bong Hwa Lee, Soon Beom Kang, and Jae-Gahb Park
Received April 3, 2002; Accepted June 26, 2002
Online Citation: Human Mutation , Mutation in Brief #530(2002) Online
Print Citation: Volume 20, Issue 3, page 235

Analysis of the Glucocerebrosidase Gene and Mutation Profile in 144 Italian Gaucher Patients
Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, Marco Seri, Fiorina Giona, Giancarlo Parenti, Stefano Regis, Fabio Corsolini, Stefania Zoboli, and Rosanna Gatti
Received April 24, 2002; Accepted June 5, 2002
Online Citation: Human Mutation , Mutation in Brief #529(2002) Online
Print Citation: Volume 20, Issue 3, pages 234-235

Human Piebaldism: Six Novel Mutations of the Proto-oncogene KIT
Petros Syrris, Kirsten Heathcote, Romeo Carrozzo, Koen Devriendt, Nursel Elçioglu, Christine Garrett, Meriel McEntagart, and Nicholas D. Carter
Received April 29, 2002; Accepted June 25, 2002
Online Citation: Human Mutation , Mutation in Brief #528(2002) Online
Print Citation: Volume 20, Issue 3, page 234

Analysis of the PTCH Coding Region in Human Rhabdomyosarcoma
Julia Calzada-Wack, Udo Schnitzbauer, Axel Walch1, Karl-Heinz Wurster, Roland Kappler, Michaela Nathrath, and Heidi Hahn
Received March 5, 2002; Accepted June 24, 2002
Online Citation: Human Mutation , Mutation in Brief #527(2002) Online
Print Citation: Volume 20, Issue 3, pages 233-234

Genetic Background of Huntington Disease in Croatia: Molecular Analysis of CAG, CCG, and D2642 (E2642del) Polymorphisms
Silva Hecimovic, Nataša Klepac, Jelena Vlašic, Aleksandar Vojta, Dolores Janko, Ingrid Škarpa-Prpic, Nina Canki-Klain, Dubravko Markoviæ, Jadranka Bozikov, Maja Relja, and Krešimir Pavelic
Received February 11, 2002; Accepted June 18, 2002
Online Citation: Human Mutation , Mutation in Brief #526(2002) Online
Print Citation: Volume 20, Issue 3, page 233

Genotype-Phenotype Studies of Six Novel LPL Mutations in Chinese Patients with Hypertriglyceridemia
Lisa Y.S. Chan, Ching-Wan Lam, Ying-Tat Mak, Brian Tomlinson, Man-Woo Tsang, Larry Baum, John R.L. Masarei, and Chi-Pui Pang
Received March 1, 2002; Accepted June 15, 2002
Online Citation: Human Mutation , Mutation in Brief #525(2002) Online
Print Citation: Volume 20, Issue 3, pages 232-233

A Founder Mutation (R254X) of SLC22A5 (OCTN2) in Chinese Primary Carnitine Deficiency Patients
Nelson L.S. Tang, W.L. Hwu, Rachel T. Chan, L.K. Law, L.M. Fung, and W.M. Zhang
Received March 28, 2002; Accepted June 14, 2002
Online Citation: Human Mutation , Mutation in Brief #524(2002) Online
Print Citation: Volume 20, Issue 3, page 232

Identification of Seven Novel Mutations of F8C by DHPLC
Sabrina Frusconi, Ilaria Passerini, Francesca Girolami, Maddalena Masieri, Silvia Linari, Giovanni Longo, Massimo Morfini, and Francesca Torricelli
Received January 22, 2002; Accepted June 5, 2002
Online Citation: Human Mutation , Mutation in Brief #523(2002) Online
Print Citation: Volume 20, Issue 3, pages 231-232

Molecular Analysis of 30 Mucopolysaccharidosis Type I Patients: Evaluation of the Mutational Spectrum in Italian Population and Identification of 13 Novel Mutations
N. Venturi , A. Rovelli , R. Parini , F. Menni , F. Brambillasca , F. Bertagnolio, G. Uziel, R. Gatti, M. Filocamo, M.A. Donati, A. Biondi, and S. Goldwurm
Received April 23, 2002; Accepted June 3, 2002
Online Citation: Human Mutation , Mutation in Brief #522(2002) Online
Print Citation: Volume 20, Issue 3, page 231

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A
Carole T. Monney, Valérie Kaltenrieder, Pascal Cousin, Christophe Bonny, and Daniel F. Schorderet
Received January 28, 2002; Accepted May 15, 2002
Online Citation: Human Mutation , Mutation in Brief #521(2002) Online
Print Citation: Volume 20, Issue 3, pages 230-231

Analysis of Breast Cancer Susceptibility Genes BRCA1 and BRCA2 in Thai Familial and Isolated Early-onset Breast and Ovarian Cancer
Pimpicha Patmasiriwat, Kris Bhothisuwan, Olga M. Sinilnikova, Sandrine Chopin, Suthida Methakijvaroon, Michael Badzioch, Puchong Padungsutt, Phantip Vattanaviboon, Vanchai Vattanasapt, Csilla Szabo, Grady F. Saunders, David Goldgar, and Gilbert M. Lenoir
Received February 15, 2002; Accepted April 5, 2002
Online Citation: Human Mutation , Mutation in Brief #520(2002) Online
Print Citation: Volume 20, Issue 3, page 230

Identification of Five Novel WASP Mutations in Chinese Families With Wiskott-Aldrich Syndrome
Koon-Wing Chan, Tsz-Leung Lee, Brian Hon-Yin Chung, Xiqiang Yang, and Yu-Lung Lau
Received February 10, 2002; Accepted May 6, 2002
Online Citation: Human Mutation , Mutation in Brief #519(2002) Online
Print Citation: Volume 20, Issue 2, pages 151-152

Mutations in the Human ATP-Binding Cassette Transporters ABCG5 and ABCG8 in Sitosterolemia
Susanne Heimerl, Thomas Langmann, Christoph Moehle, Richard Mauerer, Michael Dean, Frank-Ulrich Beil, Klaus von Bergmann, and Gerd Schmitz
Received January 28, 2002; Accepted April 26, 2002
Online Citation: Human Mutation , Mutation in Brief #518(2002) Online
Print Citation: Volume 20, Issue 2, page 151

Two Novel Mutations and a New STK11/LKB1 Gene Isoform in Peutz-Jeghers Patients
N. Resta, A. Stella, F.C. Susca, M. Di Giacomo, G. Forleo, I. Miccolis, F.P. Rossini, M. Genuardi, A. Piepoli, P

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