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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.
Human Mutation|February 12, 2000
A new nonamyloid transthyretin variant, G101S, detected by electrospray ionization/mass spectrometry. Mutations in brief no. 201. OnlineM Kishikawa, T Nakanishi, A Miyazaki, et al.
Human Mutation|February 12, 2000
Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. OnlineB Quaresima, C Grandinetti, F Baudi, et al.
Human Mutation|February 12, 2000
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. OnlineS L Karsten, E Voskoboeva, B M Carlberg, et al.
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