A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

Human mutation

Volumn 16, Issue 5, 2000, Pages 447-

  Wu, M C ^a   Tsai, F J ^a   Lee, C C ^a   Tsai, C H ^a   Wu, J Y ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE; HISTIDINE; LEUCINE;

ALTERNATIVE RNA SPLICING; ARTICLE; CHINA; ENZYMOLOGY; ETHNOLOGY; FEMALE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR FAMILY; TAIWAN;

ALTERNATIVE SPLICING; CHINA; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HISTIDINE; HUMANS; LEUCINE; MALE; MUTATION, MISSENSE; NUCLEAR FAMILY; TAIWAN;

EID: 0034323187     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M     Document Type: Article

References (0)