Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.

Human mutation

Volumn 16, Issue 1, 2000, Pages 89-

  Kozak L ^a   Francova H ^a   Hrabincova E ^a   Stastna S ^a   Peskova K ^a   Elleder, M ^a  

^a Research Institute of Child Health Brno   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; GLUCOSE 6 PHOSPHATASE; LYSINE; VALINE;

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

ALANINE; AMINO ACID SUBSTITUTION; ASPARAGINE; CZECH REPUBLIC; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; LYSINE; MUTATION; SEQUENCE DELETION; SLOVAKIA; VALINE;

EID: 0034221628     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.3.CO;2-1     Document Type: Article

References (0)