A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

American Journal of Human Genetics

Volumn 65, Issue 4, 1999, Pages 1030-1039

  Rahman, Shamima ^e   Taanman, Jan Willem ^e   Cooper, J Mark ^e   Nelson, Isabelle ^e   Hargreaves, Ian ^e   Meunier, Brigitte ^a   Hanna, Michael G ^e   García, José J ^c   Capaldi, Roderick A ^c   Lake, Brian D ^b   Leonard, James V ^e   Schapira, Anthony H V ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OREGON   (United States)

^d ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOCHROME C OXIDASE; HEME; LYSINE; METHIONINE; MITOCHONDRIAL DNA;

ADOLESCENT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CROSS REACTION; ENZYME SUBUNIT; HUMAN; LACTIC ACIDOSIS; MALE; MISSENSE MUTATION; MITOCHONDRIAL RESPIRATION; MYOPATHY; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN BINDING; SEQUENCE ANALYSIS;

EID: 0001411977     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302590     Document Type: Article

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