2009-07-08Zeitschriftenartikel
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
Endo, Yoriko; Fateen, Ekram; Aoyama, Yoshiko; Ebara, Tetsu; Murase, Toshio; Podskarbi, Teodor; Shin, Yoon S.; Okubo, Minoru
Background: Glycogen storage disease type III (GSD III) is caused by mutations in AGL which encodes for a single protein with two enzyme activities: oligo-1, 4-1, 4-glucantransferase (transferase) and amylo-1, 6-glucosidase. ...