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Human Mutation|October 29, 2002
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patientsMegan A Maxwell, Tamara Allen, Pamela B Solly, et al.
Human Mutation|October 29, 2002
A collection of 33 novel human mtDNA homoplasmic variantsMarco Crimi, Monica Sciacco, Sara Galbiati, et al.
Human Mutation|October 29, 2002
Cyclooxygenase 1 (COX1) polymorphisms in African-American and Caucasian populationsCornelia M Ulrich, Jeannette Bigler, Justin Sibert, et al.
Human Mutation|January 29, 2000
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. OnlineM G Miano, D Valverde, T Solans, et al.
Human Mutation|January 29, 2000
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. OnlineT Bienvenu, S Bousquet, D Vidaud, et al.
Human Mutation|April 29, 1999
Low yield of polymorphisms from EST blast searching: analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1L Forsberg, U de Faire, R Morgenstern
Human Mutation|April 29, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT familiesR J Jongbloed, A A Wilde, J L Geelen, et al.
Human Mutation|April 29, 1999
A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. OnlineH Peters, D Hess, R Fahsold, et al.
Human Mutation|April 29, 1999
A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. OnlineI Lerer, A Laufer-Cahana, J R Rivlin, et al.
Human Mutation|April 29, 1999
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. OnlineA Marcão, O Amaral, E Pinto, et al.
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