The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background

Biochemical and Biophysical Research Communications

Volumn 426, Issue 2, 2012, Pages 286-288

  Hussain, Abrar ^a   Armistead, Joy ^a   Gushulak, Lara ^a   Kruck, Christa ^a   Pind, Steven ^a   Triggs Raine, Barbara ^a   Natowicz, Marvin R ^b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Ashkenazi Jewish; Glycogen; Glycogen branching enzyme; Glycogen storage disease; GSD type IV; Polyglucosan body disease

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; GLYCOGEN BRANCHING ENZYME 1; UNCLASSIFIED DRUG;

ADULT POLYGLUCOSAN BODY DISEASE; ALLELE; ARTICLE; GENE FREQUENCY; GENE MUTATION; GLYCOGEN STORAGE DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TAY SACHS DISEASE;

BETA-HEXOSAMINIDASE ALPHA CHAIN; GENE FREQUENCY; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE; HUMANS; JEWS; MUTATION; NERVOUS SYSTEM DISEASES;

EID: 84866384263     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.08.089     Document Type: Article

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