Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Human mutation

Volumn 16, Issue 5, 2000, Pages 446-

  Tang, N L ^a   Hui, J ^a   Law, L K ^a   Lam, Y Y ^a   Chan, K Y ^a   Yeung, W L ^a   Chan, A Y ^a   Cheung, K L ^a   Fok, T F ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; OXIDOREDUCTASE;

ALTERNATIVE RNA SPLICING; ANIMAL; ARTICLE; BLOOD; CHILD; CHINA; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; INBORN ERROR OF METABOLISM; MALE; MOUSE; MUTATION; PEDIGREE; SWINE;

ALTERNATIVE SPLICING; ANIMALS; CHILD; CHINA; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HETEROZYGOTE DETECTION; HUMANS; MALE; METABOLISM, INBORN ERRORS; MICE; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; SWINE;

EID: 0034320242     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y     Document Type: Article

References (0)