𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

✍ Scribed by Paule Bénit; Ali Kara-Mostefa; Smail Hadj-Rabia; Arnold Munnich; Jean-Paul Bonnefont


Book ID
101262152
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
187 KB
Volume
14
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis


Communicated by


📜 SIMILAR VOLUMES


Mutation screening of the entire coding
✍ Karin Mayer; Wolfgang Ballhausen; Hans-Dieter Rott 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 422 KB 👁 2 views

## Communicated by Riccardo Fodde Mutation analyses in tuberous sclerosis (TSC) have reported a wide variety of disease-causing aberrations in the two known predisposing genes, TSC1 and TSC2 on chromosomes 9q34 and 16p13, comprising mainly small mutations distributed over the entire genes. So far,