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Human Mutation|January 8, 2000
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. OnlineM Mottes, M Gomez Lira, F Zolezzi, et al.Human Mutation|January 8, 2000
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. OnlineK Klaus, F Herfarth, O A Ogunbiyi, et al.Human Mutation|November 26, 1999
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndromeT Kohsaka, M Tagawa, Y Takekoshi, et al.Human Mutation|November 26, 1999
Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiencyM Tredano, R M van Elburg, A G Kaspers, et al.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
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.Pageof 583