Two new mutations in the human E1 β subunit of branched chain α-ketoacid dehydrogenase associated with maple syrup urine disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1361, Issue 3, 1997, Pages 263-271

  McConnell, Beth B ^a   Burkholder, Brett ^a   Danner, Dean J ^a  

^a EMORY UNIVERSITY   (United States)

Author keywords

Branched chain ketoacid dehydrogenase; Maple syrup urine disease; Mutant E1 ; Thiamin pyrophosphate binding

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE);

ARTICLE; CONTROLLED STUDY; HUMAN; HUMAN CELL; MAPLE SYRUP URINE DISEASE; MUTANT; MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CELL LINE, TRANSFORMED; HETEROZYGOTE; HUMANS; MAPLE SYRUP URINE DISEASE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BIOSYNTHESIS; PROTEIN KINASES; SEQUENCE HOMOLOGY, AMINO ACID;

ACER;

EID: 0030662182     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(97)00046-X     Document Type: Article

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