Egyptian glycogen storage disease type III - Identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Clinical Chemistry and Laboratory Medicine

Volumn 47, Issue 10, 2009, Pages 1233-1238

  Endo, Yoriko ^a   Fateen, Ekram ^b   El Shabrawy, Mortada ^c   Aoyama, Yoshiko ^a   Ebara, Tetsu ^a   Murase, Toshio ^a   Podskarbi, Teodor ^d   Shin, Yoon S ^d   Okubo, Minoru ^a,e  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b NATIONAL RESEARCH CENTRE   (Egypt)

^c CAIRO UNIVERSITY   (Egypt)

^d Molecular Genetics and Metabolism Laboratory   (Germany)

^e TORANOMON HOSPITAL   (Japan)

Author keywords

AGL; Glycogen storage disease type III; Large deletion; Missense mutation; Transferase

Indexed keywords

GLYCOGEN DEBRANCHING ENZYME; LEUCINE; PROLINE;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EGYPT; ETHNIC GROUP; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; HAPLOTYPE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

AFRICAN CONTINENTAL ANCESTRY GROUP; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; EGYPT; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE DELETION; TRANSFERASES;

EID: 70349838584     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2009.281     Document Type: Article

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