Enoyl-CoA hydratase deficiency: Identification of a new type of D-bifunctional protein deficiency

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1509-1516

  Van Grunsven, Elisabeth G ^a   Mooijer, Petra A W ^a   Aubourg, Patrick ^b   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; ENOYL COENZYME A HYDRATASE; MUTANT PROTEIN;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FIBROBLAST; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

17-HYDROXYSTEROID DEHYDROGENASES; 3-HYDROXYACYL COA DEHYDROGENASES; AMINO ACID SUBSTITUTION; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ENOYL-COA HYDRATASE; FATAL OUTCOME; GENETIC COMPLEMENTATION TEST; HUMANS; HYDRO-LYASES; INFANT; MALE; MULTIENZYME COMPLEXES; PEROXISOMAL DISORDERS; POINT MUTATION;

SACCHAROMYCES CEREVISIAE;

EID: 0032816205     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1509     Document Type: Article

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