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Human Mutation|January 4, 2001
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysisI Zwaenepoel, E Verpy, S Blanchard, et al.Human Mutation|January 4, 2001
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndromeC Crosnier, C Driancourt, N Raynaud, et al.Human Mutation|January 4, 2001
Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer familiesS A Vaziri, L M Krumroy, M Rostai, et al.Human Mutation|November 26, 1999
Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, ItalyI Dianzani, U Landegren, C Camaschella, et al.Human Mutation|November 26, 1999
Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favismE Jablonska-Skwiecinska, I Lewandowska, D Plochocka, et al.Human Mutation|November 26, 1999
High incidence of cancer in a family segregating a mutation of the ATM gene: possible role of ATM heterozygosity in cancerJ O Bay, N Uhrhammer, D Pernin, et al.Human Mutation|November 26, 1999
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing lossZ Talebizadeh, P M Kelley, J W Askew, et al.Human Mutation|November 26, 1999
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndromeN López-Bigas, R Rabionet, R de Cid, et al.Human Mutation|November 26, 1999
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skippingS Vuillaumier-Barrot, A Barnier, M Cuer, et al.Human Mutation|December 29, 1999
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussionJ T den Dunnen, S E AntonarakisPageof 583