𝔖 Bobbio Scriptorium
✦   LIBER   ✦

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

✍ Scribed by Abd El-Aziz, Mai M; Barragan, Isabel; O'Driscoll, Ciara A; Goodstadt, Leo; Prigmore, Elena; Borrego, Salud; Mena, Marcela; Pieras, Juan I; El-Ashry, Mohamed F; Safieh, Leen Abu


Book ID
109914330
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
360 KB
Volume
40
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation spectrum of EYS in Spanish pati
✍ Isabel Barragán; Salud Borrego; Juan Ignacio Pieras; María González-del Pozo; Ja 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 309 KB 👁 1 views

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In