𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Hereditary Paraganglioma Due to the SDHD M1I Mutation in a Second Chinese Family: A Founder Effect?

✍ Scribed by Soo-Chin Lee; Siok-Bee Chionh; Siew-Meng Chong; Peter E. M. Taschner


Book ID
110084379
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
838 KB
Volume
113
Category
Article
ISSN
0023-852X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Is the c.3G>C mutation in the succinate
✍ Yang Zha; Xing-ming Chen; Ching-wan Lam; Soo-chin Lee; Sui-fan Tong; Zhi-qiang G πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 477 KB

## Abstract ## Objectives/Hypothesis: Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (__SDHD__) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It

Parkinson's disease due to the R1441G mu
✍ Javier SimΓ³n-SΓ‘nchez; JosΓ©-FΓ©lix MartΓ­-MassΓ³; JosΓ© Vicente SΓ‘nchez-Mut; Coro Pai πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 128 KB

## Abstract The recent discovery of mutations in Dardarin (__LRRK2__) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of