Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1
Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3
✍ Scribed by Benedikt Schoser; Dieter Gläser; Josef Müller-Höcker
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 217 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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