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Human Mutation|October 26, 1999
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutationsP Bénit, A Kara-Mostefa, S Hadj-Rabia, et al.
Human Mutation|October 26, 1999
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutationsJ Aldudo, M J Bullido, F Valdivieso
Human Mutation|October 26, 1999
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenitaR Brugnoni, S Galantini, P Confalonieri, et al.
Human Mutation|July 29, 1999
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesisH S Stewart, A E Ridgway, M J Dixon, et al.
Human Mutation|July 29, 1999
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategyS Castellví-Bel, S Sheikhavandi, M Telatar, et al.
Human Mutation|November 26, 1999
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversionsS Karsten, E Voskoboeva, X Krasnopolskaja, et al.
Human Mutation|November 26, 1999
Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from TaiwanC H Tsai, F J Tsai, J Y Wu, et al.
Human Mutation|November 26, 1999
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patientM Okubo, F Kanda, A Horinishi, et al.
Human Mutation|February 5, 2000
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. OnlineM Fichera, C Romano, L Castiglia, et al.
Human Mutation|February 5, 2000
Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. OnlineM R dos Santos, P Jorge, E M Ribeiro, et al.
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