A polymorphic variant in the human electron transfer flavoprotein α- chain (α-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation

Molecular Genetics and Metabolism

Volumn 67, Issue 2, 1999, Pages 138-147

  Bross, Peter ^a   Pedersen, Palle ^a   Winter, Vibeke ^a   Nyholm, Marit ^a   Johansen, Bent Nagstrup ^a   Olsen, Rikke K J ^a   Corydon, Morten J ^a   Andresen, Brage S ^a   Eiberg, Hans ^b   Kølvraa, Steen ^a   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; FLAVOPROTEIN; MALONIC ACID DERIVATIVE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; SHORT CHAIN FATTY ACID; VERY LONG CHAIN FATTY ACID;

ARTICLE; CHILDHOOD DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRON TRANSPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; THERMOSTABILITY; URINARY EXCRETION;

EID: 20244371307     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2856     Document Type: Article

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