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Human Mutation|January 24, 2006
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertensionRajiv D Machado, Micheala A Aldred, Victoria James, et al.Human Mutation|January 24, 2006
A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1Santiago Vernia, Delphine Eberlé, Antonio Hernandez Mijares, et al.Human Mutation|January 24, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutationsRoser Urreizti, Carla Asteggiano, Mónica Cozar, et al.Human Mutation|January 15, 1999
Molecular analysis of chronic granulomatous disease caused by defects in gp91-phoxP J Patiño, J E Perez, J A Lopez, et al.Human Mutation|January 15, 1999
Mutation analyses of North American APS-1 patientsM Heino, H S Scott, Q Chen, et al.Human Mutation|January 15, 1999
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindnessN al-Jandal, G J Farrar, A S Kiang, et al.Human Mutation|January 1, 1995
Applications of heteroduplex analysis for mutation detection in disease genesD Glavac, M DeanHuman Mutation|January 1, 1995
Analysis of mutational changes at the HLA locus in single human spermM M Huang, H A Erlich, M F Goodman, et al.Human Mutation|January 1, 1995
Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratoriesM J Schwarz, G M Malone, A Haworth, et al.Human Mutation|January 1, 1995
French CF family genotype analysis shows that the R297Q mutation is a rare polymorphismI Dorval, P Jézéquel, B Chauvel, et al.Pageof 577