Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Journal of Human Genetics

Volumn 50, Issue 10, 2005, Pages 538-542

  Endo, Yoriko ^a   Fateen, Ekram ^c   Aoyama, Yoshiko ^a   Horinishi, Asako ^a   Ebara, Tetsu ^a   Murase, Toshio ^a   Shin, Yoon S ^d   Okubo, Minoru ^a,b  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b TORANOMON HOSPITAL   (Japan)

^c NATIONAL RESEARCH CENTRE   (Egypt)

^d UNIVERSITY OF MUNICH   (Germany)

Author keywords

AGL; Deletion; Egypt; Glycogen storage disease type III; Haplotype; Nonsense mutation

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CELL HETEROGENEITY; CONSANGUINITY; CONTROLLED STUDY; EGYPT; ENZYME ACTIVITY; ETHNOLOGY; GENE DELETION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; HAPLOTYPE; HOMOZYGOSITY; HUMAN; JAPAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATIENT; PREVALENCE; RECESSIVE INHERITANCE;

ALLELES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EGYPT; FEMALE; GENE FREQUENCY; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HAPLOTYPES; HUMANS; MALE; SEQUENCE DELETION;

EID: 27644439794     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0291-3     Document Type: Article

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