Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

Journal of Inherited Metabolic Disease

Volumn 21, Issue 2, 1998, Pages 141-148

  Parvari, R ^a   Shen, J ^b   Hershkovitz, E ^a   Chen, Y T ^b   Moses, S W ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; GLYCOGEN DEBRANCHING ENZYME;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; ENZYME ACTIVITY; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; INFANT; JEW; MALE; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHILD, PRESCHOOL; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRENATAL DIAGNOSIS;

EID: 0031980608     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005343625756     Document Type: Article

References (23)

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