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Human Mutation|September 5, 2003
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variantMaria Savino, Adriana Borriello, Maria D'Apolito, et al.Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifsShaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.Human Mutation|August 26, 2003
CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programsGenoveva Keyeux, Clemencia Rodas, Thierry Bienvenu, et al.Human Mutation|January 1, 1992
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?B Dworniczak, L Kalaydjieva, S Pankoke, et al.Human Mutation|November 25, 2003
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiencyShinjiro Akaboshi, Boris M Hogema, Andrea Novelletto, et al.Human Mutation|November 25, 2003
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in FranceEvelyne Colomb, Josseline Kaplan, Henri-Jean GarchonHuman Mutation|November 25, 2003
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1R M Brown, R A Head, I I Boubriak, et al.Human Mutation|October 27, 2007
Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)M Upadhyaya, Lan Kluwe, G Spurlock, et al.Human Mutation|October 17, 2007
AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans. Mutation in brief no. 981. OnlineZoë M Prichard, Andrew J Mackinnon, Anthony F Jorm, et al.Pageof 583