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Human Mutation|April 19, 2006
Confirmation of the origin of NISCH syndromeL Feldmeyer, M Huber, F Fellmann, et al.
Human Mutation|May 4, 2006
m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumorsM Esther Gallardo, Raquel Moreno-Loshuertos, Celia López, et al.
Human Mutation|May 3, 2006
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1P K Ilja Boor, Koen de Groot, Vlatka Mejaski-Bosnjak, et al.
Human Mutation|May 3, 2006
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3Sandrine Boutboul, Graeme C M Black, John E Moore, et al.
Human Mutation|May 3, 2006
Comparisons of PCR-based genome amplification systems using CpG island microarraysBrian L Pike, Susan Groshen, Ya-Hsuan Hsu, et al.
Human Mutation|March 22, 2006
Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome databaseWei Li, Min He, Helin Zhou, et al.
Human Mutation|February 13, 2004
Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populationsMasahiro Sasaki, Yuichiro Tanaka, Masanori Kaneuchi, et al.
Human Mutation|February 13, 2004
Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese populationMayumi Saeki, Yoshiro Saito, Takahiro Nakamura, et al.
Human Mutation|February 13, 2004
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean populationMaria Concetta Fargnoli, Sergio Chimenti, Gisela Keller, et al.
Human Mutation|October 2, 2004
Polymorphism analysis within the HLA-A locus by universal oligonucleotide arrayClarissa Consolandi, Andrea Frosini, Cinzia Pera, et al.
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