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Human Mutation|November 26, 1999
Missense mutations in the cystic fibrosis gene in adult patients with asthmaC Lázaro, R de Cid, J Sunyer, et al.
Human Mutation|November 26, 1999
Analysis of exon 1 mutations in the androgen receptor geneB Gottlieb, D M Vasiliou, R Lumbroso, et al.
Human Mutation|April 13, 1999
A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. OnlineT Maruyama, Y Miyake, T Yamamura, et al.
Human Mutation|April 13, 1999
Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. OnlineT Matsumura, H Osaka, N Sugiyama, et al.
Human Mutation|April 29, 1999
WRN mutations in Werner syndromeM J Moser, J Oshima, R J Monnat
Human Mutation|April 29, 1999
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaT Scherer-Oppliger, A Matasovic, S Laufs, et al.
Human Mutation|April 29, 1999
Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. OnlineC Karadimas, M Panas, P Chronopoulou, et al.
Human Mutation|April 24, 1999
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. OnlineN Katsumata, A Tanae, T Shinagawa, et al.
Human Mutation|April 24, 1999
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. OnlineF Sangiuolo, A Botta, A Mesoraca, et al.
Human Mutation|April 24, 1999
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.
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