𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects

✍ Scribed by Caroline Rooryck; Fanny Morice-Picard; Nursel H. Elçioglu; Didier Lacombe; Alain Taieb; Benoît Arveiler


Book ID
118074622
Publisher
Wiley (Blackwell Publishing)
Year
2008
Tongue
English
Weight
48 KB
Volume
21
Category
Article
ISSN
1755-1471

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Five novel frameshift mutations in exon
✍ Thierry Bienvenu; Isabelle Souville; Karine Poirier; Cécile Aquaviva; Lydie Burg 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cases. We report here five novel frameshift mutations