Coenen, M J H

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