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Human Mutation|August 14, 1999
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiencyY Espinosa-Parrilla, M Morell, J C Souto, et al.Human Mutation|August 14, 1999
No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in ChildhoodO P Kristiansen, Z M Larsen, J Johannesen, et al.Human Mutation|August 14, 1999
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. OnlineH Hattori, M Nagano, F Iwata, et al.Human Mutation|August 14, 1999
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. OnlineC Hartog, A Fryer, M UpadhyayaHuman Mutation|August 14, 1999
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. OnlineN Sugiyama, K Suzuki, T Matsumura, et al.Human Mutation|August 14, 1999
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. OnlineN Krone, A Braun, A A Roscher, et al.Human Mutation|August 14, 1999
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. OnlineP Trioche, J Francoual, J Chalas, et al.Human Mutation|August 14, 1999
Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis. Mutation in brief no. 257. OnlineR Gershoni-Baruch, I Kepten, M Shinawi, et al.Human Mutation|August 14, 1999
Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia. Mutation in brief no. 258. OnlineB Csokay, L Tihomirova, A Stengrevics, et al.Human Mutation|January 4, 2001
Factor VII deficiency and the FVII mutation databaseJ H McVey, E Boswell, A D Mumford, et al.Pageof 583