A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III

Journal of Human Genetics

Volumn 59, Issue 1, 2014, Pages 42-45

  Ko, Jae Sung ^a   Moon, Jin Soo ^a   Seo, Jeong Kee ^a   Yang, Hye Ran ^a   Chang, Ju Young ^a   Park, Sung Sup ^b  

^a Seoul National University Hospital   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

Author keywords

AGL; glycogen storage disease type III; Korea; mutation

Indexed keywords

AMYLO 1,6 GLUCOSIDASE 4 ALPHA GLUCANOTRANSFERASE; GLYCOGEN DEBRANCHING ENZYME; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 3; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HYPOGLYCEMIA; KOREA; LABORATORY TEST; LIVER BIOPSY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICING DEFECT; WEAKNESS;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HETEROZYGOTE; HUMANS; MALE; MUTATION; REPUBLIC OF KOREA; SEQUENCE ALIGNMENT;

EID: 84893284526     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.117     Document Type: Article

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