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Human Mutation|May 25, 1999
Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. OnlineG Marino, S Travali, T Reyes, et al.
Human Mutation|October 26, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patientS Marlin, S Blanchard, R Slim, et al.
Human Mutation|October 26, 1999
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletionsC Lopez Correa, H Brems, C Lázaro, et al.
Human Mutation|October 26, 1999
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defectsK Mayer, W Ballhausen, H D Rott
Human Mutation|October 26, 1999
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence changeK T Hiriyanna, E L Bingham, B M Yashar, et al.
Human Mutation|January 8, 2000
Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. OnlineC A Moskaluk, H Hruban, A Lietman, et al.
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.
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