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Human Mutation|February 16, 2005
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiencyMarie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, et al.Human Mutation|February 16, 2005
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatographyJunaid Shabbeer, Misi Robinson, Robert J DesnickHuman Mutation|February 16, 2005
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutationsHeidi K A Kuehl, Martin Caselitz, Sandra Hasenkamp, et al.Human Mutation|February 16, 2005
PIK3CA mutations in advanced ovarian carcinomasYun Wang, Aslaug Helland, Ruth Holm, et al.Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.Human Mutation|February 17, 2005
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expressionPetra Zavadáková, Brian Fowler, Terttu Suormala, et al.Human Mutation|January 12, 2005
DNA damage detection and repair, and the involvement of epigenetic statesSahar Bassal, Assam El-OstaHuman Mutation|January 12, 2005
Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C (ADH1C) gene expressionHui-Ju Chen, Huijun Tian, Howard J EdenbergHuman Mutation|January 12, 2005
Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markersNigel P S Crawford, Daniel W Colliver, Alisa A Funke, et al.Human Mutation|January 12, 2005
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotideCarolyn H Buzin, Jinong Feng, Jin Yan, et al.Pageof 583