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Human Mutation|October 3, 2000
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutationsX Li, J B Drost, S Roberts, et al.
Human Mutation|January 11, 2000
Novel thymidylate synthase enhancer region alleles in African populationsS Marsh, M M Ameyaw, J Githang'a, et al.
Human Mutation|January 11, 2000
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutationsR C Leite, D S Basseres, J S Ferreira, et al.
Human Mutation|January 1, 1993
Familial genetic defect in a case of leukocyte adhesion deficiencyY Ohashi, T Yambe, S Tsuchiya, et al.
Human Mutation|January 1, 1993
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypesP Gasparini, C Marigo, G Bisceglia, et al.
Human Mutation|January 1, 1993
Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variationsM Ravnik-Glavac, D Glavac, R Komel, et al.
Human Mutation|January 1, 1993
Molecular characterisation of Vietnamese HPFHP I Motum, T J Hamilton, R Lindeman, et al.
Human Mutation|January 1, 1995
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)N J Lench, G B Winter
Human Mutation|January 1, 1996
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patientB Aral, G de Saint Basile, S Al-Garawi, et al.
Human Mutation|January 1, 1993
Deletions with inversions: report of a mutation and review of the literatureR P Ketterling, D O Ricke, M W Wurster, et al.
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