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Human Mutation|January 1, 1995
A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratoryJ Wall, S Cai, F F ChehabHuman Mutation|January 1, 1994
Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutationsL Bisceglia, A Grifa, L Zelante, et al.Human Mutation|January 1, 1994
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4)M Chillón, T Casals, J Giménez, et al.Human Mutation|January 1, 1994
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategyM Ravnik-Glavac, D Glavac, M Chernick, et al.Human Mutation|January 1, 1995
Allele-specific competitive blocker PCR: a one-step method with applicability to pool screeningA Orou, B Fechner, G Utermann, et al.Human Mutation|January 1, 1993
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type IIM M Hermans, M A Kroos, E de Graaff, et al.Human Mutation|January 1, 1993
Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IXP M Green, V E Mitchell, A McGraw, et al.Human Mutation|January 1, 1993
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplificationR Kornreich, R J DesnickHuman Mutation|January 1, 1993
Detection of K-ras mutation in sputum by mutant-allele-specific amplification (MASA)S Takeda, S Ichii, Y NakamuraPageof 583