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Human Mutation|January 11, 2000
Polymorphisms in a pseudogene highly homologous to PMS2R B Chadwick, J E Meek, T W Prior, et al.
Human Mutation|March 25, 1999
Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defectsM G Mutch, W G Dilley, F Sanjurjo, et al.
Human Mutation|March 25, 1999
Mutant transcripts of the LDL receptor gene: mRNA structure and quantityO K Rødningen, S Tonstad, O D Saugstad, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
Human Mutation|March 25, 1999
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansionI Panagopoulos, C Lassen, U Kristoffersson, et al.
Human Mutation|March 25, 1999
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. OnlineK Claes, E Machackova, M De Vos, et al.
Human Mutation|March 1, 2000
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. OnlineD R Booth, J D Gillmore, M R Persey, et al.
Human Mutation|March 1, 2000
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. OnlineI Gluck, M Zeigler, R Bargal, et al.
Human Mutation|March 1, 2000
A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. OnlineU Grau, H G Klein, C Detter, et al.
Human Mutation|March 1, 2000
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. OnlineD J Klaus, C J Gallione, K Anthony, et al.
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