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Human Mutation|July 9, 2004
A gel-free SNP genotyping method: bioluminometric assay coupled with modified primer extension reactions (BAMPER) directly from double-stranded PCR productsGuo-Hua Zhou, Hiromi Shirakura, Masao Kamahori, et al.Human Mutation|July 9, 2004
Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2Gael Carney, Shu Wei, William B RizzoHuman Mutation|February 17, 2005
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic allelesLjubica Caldovic, Hiroki Morizono, Maria G Panglao, et al.Human Mutation|February 17, 2005
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer diseaseYonghong Li, Paul Hollingworth, Pamela Moore, et al.Human Mutation|July 13, 2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningMaria Fernanda Dantas, Terttu Suormala, Ann Randolph, et al.Human Mutation|August 9, 2005
Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor lociUnkyung Kim, Stephen Wooding, Dante Ricci, et al.Human Mutation|August 9, 2005
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia ANadja Bogdanova, Arseni Markoff, Hartmut Pollmann, et al.Human Mutation|August 9, 2005
Strong bias in the location of functional promoter polymorphismsPaul R Buckland, Bastiaan Hoogendoorn, Sharon L Coleman, et al.Human Mutation|August 9, 2005
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disordersDenis I Crane, Megan A Maxwell, Barbara C PatonHuman Mutation|August 9, 2005
UMD (Universal Mutation Database): 2005 updateChristophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, et al.Pageof 583