Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations
Aoyama, Yoshiko, Ozer, Isil, Demirkol, Mubeccel, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S, Gokcay, Gulden, Okubo, MinoruVolume:
54
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2009.100
Date:
November, 2009
File:
PDF, 324 KB
english, 2009