Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.

Human mutation

Volumn 14, Issue 1, 1999, Pages 91-

  Trioche, P ^a   Francoual, J ^a   Chalas, J ^a   Capel, L ^a   Bernard, O ^a   Labrune, P ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ARTICLE; ENZYMOLOGY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MUTATION;

GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MUTATION;

EID: 0032619674     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU21>3.0.CO;2-B     Document Type: Article

References (0)