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Human Mutation|July 5, 2001
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchangeL Dvoráková, G Storkánová, G Unterrainer, et al.
Human Mutation|July 5, 2001
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?S Ennis, A Murray, N E Morton
Human Mutation|July 5, 2001
Molecular analysis of Bruton's tyrosine kinase gene in SpainM C Rodríguez, E L Granados, A F Cerdán, et al.
Human Mutation|October 23, 2001
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiencyY Indo, S Mardy, Y Miura, et al.
Human Mutation|October 23, 2001
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfectaJ M Pace, M Atkinson, M C Willing, et al.
Human Mutation|October 23, 2001
Analysis of a non-functional HNF-1alpha (TCF1) mutation in Japanese subjects with familial type 1 diabetesI Yoshiuchi, K Yamagata, M Yoshimoto, et al.
Human Mutation|October 23, 2001
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domainP Mella, R F Schumacher, T Cranston, et al.
Human Mutation|October 23, 2001
Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell functionJ Ek, N Grarup, S A Urhammer, et al.
Human Mutation|October 23, 2001
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemiaJ A Hubacek, K E Berge, J C Cohen, et al.
Human Mutation|October 23, 2001
Missense mutations of human homeoboxes: A reviewA V D'Elia, G Tell, I Paron, et al.
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