Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).

Human mutation

Volumn 16, Issue 5, 2000, Pages 449-

  Rocha, H ^a   Cabral, A ^a   Vilarinho, L ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE; GLUTAMINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; ENZYMOLOGY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MISSENSE MUTATION; PORTUGAL; STOP CODON;

AMINO ACID SUBSTITUTION; CODON, NONSENSE; CODON, TERMINATOR; GLUCOSE-6-PHOSPHATASE; GLUTAMINE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MUTATION, MISSENSE; PORTUGAL;

EID: 0034321762     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L     Document Type: Article

References (0)