Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Human Mutation

Volumn 22, Issue 1, 2003, Pages 12-23

  Olsen, Rikke Katrine J ^a   Andresen, Brage S ^a,b   Christensen, Ernst ^c   Bross, Peter ^a   Skovby, Flemming ^c   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c University of Copenhagen   (Denmark)

Author keywords

Genotype phenotype; Glutaric aciduria type II; MADD; Multiple acyl CoA dehydrogenation deficiency; Mutation analysis

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE SEVERITY; DNA SEQUENCE; ENZYME DEFICIENCY; ENZYME STABILITY; ETF GENE; ETFDH GENE; FATTY ACID OXIDATION; FIBROBLAST; GENE; GENE OVEREXPRESSION; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYNDROME DELINEATION; THERMOSTABILITY;

ACYL-COA DEHYDROGENASE; AGE OF ONSET; ALTERNATIVE SPLICING; CELLS, CULTURED; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; ELECTRON-TRANSFERRING FLAVOPROTEINS; ENZYME STABILITY; EXONS; FATTY ACID DESATURASES; FIBROBLASTS; FLAVOPROTEINS; GENOTYPE; GLUTARATES; HUMANS; INFANT, NEWBORN; IRON-SULFUR PROTEINS; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN FOLDING; PROTEIN SUBUNITS; RNA; TEMPERATURE;

EID: 0038046685     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10226     Document Type: Article

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