Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

Human Genetics

Volumn 106, Issue 2, 2000, Pages 236-243

  Parfait, Béatrice ^a   Chretien, Dominique ^a   Rötig, Agnès ^a   Marsac, Cécile ^b   Munnich, Arnold ^a   Rustin, Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Institut Necker   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVOPROTEIN; LEUCINE; METHIONINE; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 15P; CHROMOSOME 3Q; CHROMOSOME 5P; CONTROLLED STUDY; DNA TRANSFECTION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE STRUCTURE; HETEROZYGOTE; HUMAN; HUMAN CELL; LEIGH DISEASE; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE;

BASE SEQUENCE; DNA; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX II; EXONS; FEMALE; FLAVOPROTEINS; HETEROZYGOTE; HUMANS; INFANT; INTRONS; LEIGH DISEASE; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; OXIDOREDUCTASES; PROMOTER REGIONS (GENETICS); SUCCINATE DEHYDROGENASE;

EID: 0034059135     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051033     Document Type: Article

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