Molecular analysis of the AGL gene: Heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey

Journal of Human Genetics

Volumn 51, Issue 11, 2006, Pages 958-963

  Endo, Yoriko ^a   Horinishi, Asako ^a   Vorgerd, Matthias ^b   Aoyama, Yoshiko ^a   Ebara, Tetsu ^a   Murase, Toshio ^a   Odawara, Masato ^c   Podskarbi, Teodor ^d   Shin, Yoon S ^e   Okubo, Minoru ^a,f  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c TOKYO MEDICAL UNIVERSITY   (Japan)

^d Molecular Genetics and Metabolism Laboratory   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f TORANOMON HOSPITAL   (Japan)

Author keywords

AGL; Deletion; Glycogen debranching enzyme; Glycogen storage disease type III; Haplotype; Insertion; Nonsense mutation; Splicing mutation

Indexed keywords

GLYCOGEN; GLYCOGEN DEBRANCHING ENZYME;

AFGHANISTAN; AGL GENE; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INACTIVATION; ETHNIC GROUP; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; GERMANY; GLYCOGEN LIVER LEVEL; GLYCOGEN MUSCLE LEVEL; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; IRAN; LIVER; MALE; MUSCLE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; RNA SPLICING; TRANSCRIPTION TERMINATION; TURKEY (REPUBLIC);

AFGHANISTAN; CANADA; DNA MUTATIONAL ANALYSIS; GENOTYPE; GERMANY; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HAPLOTYPES; HUMANS; IRAN; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TURKEY;

EID: 33751267177     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0045-x     Document Type: Article

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