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Human Mutation|November 21, 2002
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in MexicoPablo Ruiz-Flores, Olga M Sinilnikova, Michael Badzioch, et al.Human Mutation|November 21, 2002
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese populationWenling Liu, Junguo Yang, Dayi Hu, et al.Human Mutation|November 21, 2002
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) geneMugen Terzioglu, Aysegul Tokatli, Turgay Coskun, et al.Human Mutation|November 21, 2002
A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular diseaseS Castillo, G Reyes, D Tejedor, et al.Human Mutation|November 21, 2002
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican casesChristina R Hermos, Marjan Huizing, Muriel I Kaiser-Kupfer, et al.Human Mutation|January 29, 2003
High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the methodPaal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, et al.Human Mutation|January 29, 2003
Comprehensive scanning of the ATM gene with DOVAM-SCarolyn H Buzin, Richard A Gatti, Vu Q Nguyen, et al.Human Mutation|January 29, 2003
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosisJean-Claude Scimeca, Danielle Quincey, Hugues Parrinello, et al.Human Mutation|September 27, 2002
Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assayDesiree C Petersen, Annette Laten, Michele D Zeier, et al.Human Mutation|September 27, 2002
High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlationMichael Citron, Lynn Godmilow, Tapan Ganguly, et al.Pageof 582