Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

Journal of Clinical Investigation

Volumn 98, Issue 2, 1996, Pages 352-357

  Shen, Jianjun ^a   Bao, Yong ^a   Liu, Hui Ming ^a   Lee, Philip ^b   Leonard, James V ^b   Chen, Yuan Tsong ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

glycogen storage disease type III; human glycogen debranching enzyme; mutation analysis; tissue specific gene expression

Indexed keywords

CREATINE KINASE; GLYCOGEN DEBRANCHING ENZYME;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY HISTORY; GENE EXPRESSION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; HUMAN CELL; LIVER; MUSCLE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030054818     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118799     Document Type: Article

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