Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients

European Journal of Human Genetics

Volumn 5, Issue 4, 1997, Pages 191-195

  Parvari, Ruti ^a   Lei, Ke Jian ^b   Szonyi, Laszlo ^c   Narkis, Ginat ^a   Moses, Shimon ^a   Chou, Janice Y ^b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

Author keywords

D38V; E110Q; Expression assays; G222R; Glucose 6 phosphatase; GSD 1a; Mutations; R83C

Indexed keywords

COMPLEMENTARY DNA; GLUCOSE 6 PHOSPHATASE; MICROSOME ENZYME;

ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE MUTATION; GLUCONEOGENESIS; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGENOLYSIS; HUMAN; HUNGARY; MALE; NONHUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ANIMALIA;

EID: 0030661736     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484762     Document Type: Article

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