Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).

Human mutation

Volumn 15, Issue 4, 2000, Pages 390-

  Wu, M C ^a   Tsai, F J ^a   Le, C C ^a   Lin, S P ^a   Wu, J Y ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLUCOSE 6 PHOSPHATASE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CHINA; ENZYMOLOGY; ETHNOLOGY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MISSENSE MUTATION; PHENOTYPE;

ALANINE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MUTATION, MISSENSE; PHENOTYPE; THREONINE;

EID: 0034164668     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N     Document Type: Article

References (0)