A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

Human Mutation

Volumn 9, Issue 1, 1997, Pages 37-40

  Shen, Jianjun ^a   Bao, Yong ^a   Chen, Yuan Tsong ^a  

^a DUKE UNIVERSITY   (United States)

Author keywords

deficient GDE activity; glycogen storage disease type III; homozygous 4529insA mutation

Indexed keywords

COMPLEMENTARY DNA; DNA; GLYCOGEN DEBRANCHING ENZYME;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMEGALY; CASE REPORT; CHILD; DISEASE SEVERITY; DNA SEQUENCE; ENZYME DEFICIENCY; GENE MUTATION; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 3; HEPATOMEGALY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031012232     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M     Document Type: Article

References (8)

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