A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

Human mutation

Volumn 12, Issue 2, 1998, Pages 136-

  Chinsky, J ^a   Appel, M ^a   Almashanu, S ^a   Costeas, P ^a   Ambulos Jr , N ^a   Carmi, R ^a  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); ARGININE; MULTIENZYME COMPLEX; OXIDOREDUCTASE;

ARTICLE; CONSANGUINITY; ENZYMOLOGY; GENETICS; HUMAN; MAPLE SYRUP URINE DISEASE; MISSENSE MUTATION; PEDIGREE;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); ARGININE; CONSANGUINITY; HUMANS; KETONE OXIDOREDUCTASES; MAPLE SYRUP URINE DISEASE; MULTIENZYME COMPLEXES; MUTATION, MISSENSE; PEDIGREE;

MLCS; MLOWN;

EID: 0032222626     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0     Document Type: Article

References (0)