Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Smits, P ^a   Rodenburg, R J ^a   Smeitink, J A M ^a   Van Den Heuvel, L P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHCHD1 PROTEIN, HUMAN; GBAS PROTEIN, HUMAN; MEMBRANE PROTEIN; METHYLTRANSFERASE; NIPSNAP1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PHOSPHOPROTEIN; PROTEIN;

ARTICLE; CASE CONTROL STUDY; CELL CULTURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; ENZYMOLOGY; FIBROBLAST; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; METABOLISM; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; SKELETAL MUSCLE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; PROCEDURES;

CASE-CONTROL STUDIES; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ENERGY METABOLISM; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MEMBRANE PROTEINS; METABOLISM, INBORN ERRORS; METHYLTRANSFERASES; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; NUCLEAR PROTEINS; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PHOSPHOPROTEINS; POLYMORPHISM, GENETIC; PROTEINS;

EID: 84897921807     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-0968-4     Document Type: Article

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