Glycogen storage disease type la in three siblings with the G270V mutation

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 149-154

  Parvari, R ^a   Isam, J ^b   Moses, S W ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUCOSE 6 PHOSPHATASE;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CLONING; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; INFANT; MALE; SCHOOL CHILD; SIBLING;

CHILD; EXONS; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCINE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; INFANT; MALE; POINT MUTATION; VALINE;

EID: 0032930776     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005445802822     Document Type: Article

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