Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Human Genetics

Volumn 106, Issue 2, 2000, Pages 194-205

  Poyau, Alain ^a   Buchet, Karine ^a   Bouzidi, Mohamed Fouad ^a   Zabot, Marie Thérèse ^b   Echenne, Bernard ^c   Yao, Jianbo ^d   Shoubridge, Eric A ^d   Godinot, Catherine ^a  

^a CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

^b HÔPITAL DEBROUSSE   (France)

^c HÔPITAL SAINT ELOI   (France)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROTEIN SUBUNIT;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; LEIGH DISEASE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA PRIMERS; DNA, COMPLEMENTARY; ELECTRON TRANSPORT COMPLEX IV; GENETIC COMPLEMENTATION TEST; HELA CELLS; HUMANS; LEIGH DISEASE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHYLOGENY; POLYMORPHISM, GENETIC; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION, GENETIC;

BACTERIA (MICROORGANISMS); EUKARYOTA; MAMMALIA;

EID: 0034062224     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051028     Document Type: Article

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