Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

Human mutation

Volumn 13, Issue 2, 1999, Pages 173-

  Rake, J P ^a   ten Berge, A M ^a   Verlind, E ^a   Visser, G ^a   Niezen Koning, K E ^a   Buys, C H ^a   Smit, G P ^a   Scheffer, H ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

AMINO ACID SUBSTITUTION; ARTICLE; ENZYMOLOGY; GENE DELETION; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MUTATION;

AMINO ACID SUBSTITUTION; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MUTATION; SEQUENCE DELETION;

EID: 0032619313     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E     Document Type: Article

References (0)