Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

Genetics in Medicine

Volumn 12, Issue 7, 2010, Pages 424-430

  Goldstein, Jennifer L ^a   Austin, Stephanie L ^a   Boyette, Keri ^a   Kanaly, Angela ^a   Veerapandiyan, Aravind ^a   Rehder, Catherine ^a   Kishnani, Priya S ^a   Bali, Deeksha S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

AGL gene; Cori disease; Forbes disease; GSD type III; limit dextrinosis

Indexed keywords

AGL GENE; ARTICLE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 3; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; AMINO ACID SEQUENCE; ENZYMOLOGY; EXON; GENETICS; HEART MUSCLE; HUMAN; INTRON; MUTATION; SEQUENCE HOMOLOGY;

AMYLO-1,6-GLUCOSIDASE; GLYCOGEN DEBRANCHING ENZYME;

AMINO ACID SEQUENCE; EXONS; GENETIC HETEROGENEITY; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; MYOCARDIUM; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 77955145000     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181d94eaa     Document Type: Article

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