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

Yoshiko Aoyama,Işıl Özer,Mübeccel Demirkol,Tetsu Ebara,Toshio Murase,Teodor Podskarbi,Y. S. Shin,Gülden Gökçay,Minoru Okubo

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

2009

Yoshiko Aoyama
Işıl Özer
Mübeccel Demirkol
Tetsu Ebara
Toshio Murase
Teodor Podskarbi
Y. S. Shin
Gülden Gökçay
Minoru Okubo

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

Keywords:

Molecular biology
Haplotype
Genetics
Mutation
Glycogen storage disease type III
Biology
Transferase
novel mutation

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