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Human Mutation|January 29, 2000
Isolated complex I deficiency in children: clinical, biochemical and genetic aspectsJ L Loeffen, J A Smeitink, J M Trijbels, et al.
Human Mutation|January 29, 2000
Screening practices for mutations in the CFTR gene ABCC7E Girodon-Boulandet, C Cazeneuve, M Goossens
Human Mutation|January 29, 2000
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R)L Kozák, H Francová, L Fajkusová, et al.
Human Mutation|January 29, 2000
Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American originK Yee, C Robinson, G Hurlock, et al.
Human Mutation|February 5, 2000
Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. OnlineM J Trujillo, J M Millán, C Nájera, et al.
Human Mutation|February 5, 2000
Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. OnlineC Motti, S Bertolini, P Rampa, et al.
Human Mutation|February 5, 2000
Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. OnlineY Syagailo, K Wilke, O Okladnova, et al.
Human Mutation|February 5, 2000
Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Mutations in brief no. 191. OnlineA H Walker, J M Jaffe, S Gunasegaram, et al.
Human Mutation|February 5, 2000
Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. OnlineR J Plante, M Tuchman
Human Mutation|February 12, 2000
A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. OnlineM Wolf, A Hemminki, A Kivioja, et al.
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