𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy with Hirschsprung Disease

✍ Scribed by Wen-Chau Chen; Ming-Che Tsai; Shen-Shun Chang; Edgar D. Sy


Book ID
117630580
Publisher
Chinese Electronic Periodical Services
Year
2006
Tongue
English
Weight
238 KB
Volume
105
Category
Article
ISSN
0929-6646

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel nonsense mutation of the endotheli
✍ Syrris, Petros; Carter, Nicholas D.; Patton, Michael A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i