| Yazarlar |
| Özet |
| Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL) with two enzyme activities: transferase and glucosidase. A missense mutation causing isolated glucosidase deficiency has never been reported. In this study, we examined 23 patients of Turkish ancestry and identified a novel missense mutation p. R1147G with isolated glucosidase deficiency, along with nine AGL mutations: six nonsense mutations (p. W373X, p. R595X, p. Q667X, p. Q1205X, p. W1327X and p. Q1376X), one deletion (c. 1019delA) and two splicing mutation (c. 293+ 2T> G and c. 958+ 1G> A). As p. R1147G impaired glucosidase activity, but maintained transferase activity in vitro, a 12-year-old girl homozygous for p. R1147G was diagnosed with having isolated glucosidase deficiency. Of nine other mutations, p. W1327X and c. 1019delA were ... |
| Anahtar Kelimeler |
| AGL | Glucosidase | Glycogen storage disease type III | Haplotype | Mutation | Transferase | Turkey |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayımlanan tam makale |
| Dergi Adı | Journal of Human Genetics |
| Dergi ISSN | 1434-5161 |
| Dergi Tarandığı Indeksler | |
| Dergi Grubu | Q2 |
| Makale Dili | İngilizce |
| Basım Tarihi | 11-2009 |
| Cilt No | 54 |
| Sayı | 11 |
| Sayfalar | 681 / 686 |
| Doi Numarası | 10.1038/jhg.2009.100 |
| Atıf Sayıları | |
| SCOPUS | 28 |
| Google Scholar | 38 |
