Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system. [electronic resource]
- Journal of inherited metabolic disease 2005
- 1091-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0141-8955
10.1007/s10545-005-4483-y doi
ATPases Associated with Diverse Cellular Activities Cation Transport Proteins--genetics Cell Nucleus--metabolism DNA Mutational Analysis DNA, Complementary--metabolism Electron Transport Complex IV--genetics Expressed Sequence Tags Fibroblasts--metabolism Heterozygote Humans Metalloendopeptidases--genetics Mitochondrial Diseases--genetics Mitochondrial Proteins--genetics Mutation Nuclear Proteins--genetics Open Reading Frames Oxygen--metabolism Phosphorylation Polymorphism, Genetic Sequence Analysis, DNA