Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations

Journal of Child Neurology

Volumn 21, Issue 6, 2006, Pages 508-511

  Coenen, Marieke J H ^a   Smeitink, Jan A M ^a   Pots, Jeanette M ^a   van Kaauwen, Edwin ^a   Trijbels, Frans J M ^a   Hol, Frans A ^a   van den Heuvel, Lambert P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; NUCLEAR PROTEIN; PROTEIN COX10; PROTEIN SURF1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN MITOCHONDRION; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME STRUCTURE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; SEQUENCE ANALYSIS;

ALKYL AND ARYL TRANSFERASES; CARRIER PROTEINS; COHORT STUDIES; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; OPEN READING FRAMES; SEQUENCE ANALYSIS;

EID: 33746077185     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.2310/7010.2006.00136     Document Type: Article

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