𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The first report of homozygous May–Hegglin anomaly E1841K mutation

✍ Scribed by Behzad Poopak; Hamid Rezvani; Analisa DiFeo; John A. Martignetti; Gelareh Khosravipour; Abolfazl Yousefian; Kobra Farahani; Fariba Haghnejad Doshanlo; Najmaldin Saki


Book ID
114794876
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
281 KB
Volume
86
Category
Article
ISSN
0902-4441

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Glycogen storage disease type IIIa: firs
✍ Minoru Okubo; Fumio Kanda; Asako Horinishi; Keiichi Takahashi; Shiho Okuda; Kazu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views

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