𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel protein S gene mutation combined with protein S Tokushima mutation in a patient with superior sagittal sinus thrombosis

✍ Scribed by Akihiro Shindo; Makoto Ikejiri; Yuichiro Ii; Kaname Nakatani; Hideo Wada; Tsutomu Nobori; Hidekazu Tomimoto


Publisher
Springer
Year
2011
Tongue
English
Weight
205 KB
Volume
259
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel mutations of ubiquitin protein lig
✍ S. Russo; F. Cogliati; M. Viri; F. Cavalleri; A. Selicorni; L. Turolla; S. Belli πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 2 views

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (∼ ∼70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte