TY  - GEN
AU  - Coenen,M J H
AU  - Smeitink,J A M
AU  - Smeets,R
AU  - Trijbels,F J M
AU  - van den Heuvel,L P
TI  - Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system
SN  - 0141-8955
PY  - 2006///0705
KW  - ATPases Associated with Diverse Cellular Activities
KW  - Cation Transport Proteins
KW  - genetics
KW  - Cell Nucleus
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - DNA, Complementary
KW  - Electron Transport Complex IV
KW  - Expressed Sequence Tags
KW  - Fibroblasts
KW  - Heterozygote
KW  - Humans
KW  - Metalloendopeptidases
KW  - Mitochondrial Diseases
KW  - Mitochondrial Proteins
KW  - Mutation
KW  - Nuclear Proteins
KW  - Open Reading Frames
KW  - Oxygen
KW  - Phosphorylation
KW  - Polymorphism, Genetic
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-005-4483-y
ER  -