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Human Mutation|July 3, 2009
Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphismVincent Ménard, Olivier Eap, Mario Harvey, et al.
Human Mutation|April 17, 2009
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlationsJordan P Lerner-Ellis, Natascia Anastasio, Junhui Liu, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
Human Mutation|April 17, 2009
SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxiasMohammed Faruq, Vinod Scaria, Inder Singh, et al.
Human Mutation|February 19, 2009
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)Shunji Tomatsu, Adriana M Montaño, Vu Chi Dung, et al.
Human Mutation|March 24, 2009
Sharing data between LSDBs and central repositoriesJohan T den Dunnen, Rolf H Sijmons, Paal S Andersen, et al.
Human Mutation|March 25, 2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophyElena Martoni, Anna Urciuolo, Patrizia Sabatelli, et al.
Human Mutation|February 5, 2009
The SAAPdb web resource: a large-scale structural analysis of mutant proteinsJacob M Hurst, Lisa E M McMillan, Craig T Porter, et al.
Human Mutation|February 5, 2009
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsyCécile Saint-Martin, Grégory Gauvain, Georgeta Teodorescu, et al.
Human Mutation|March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferré, Dominique Bonneau, Dan Milea, et al.
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