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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.Human Mutation|April 27, 2007
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiencySacha Ferdinandusse, Simone Denis, Eveline M Hogenhout, et al.Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.Human Mutation|November 13, 2007
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decayGisela Nogales-Gadea, Juan Carlos Rubio, Israel Fernandez-Cadenas, et al.Human Mutation|August 8, 2008
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French populationMickaël Guedj, Agnès Bourillon, Christophe Combadières, et al.Pageof 574