𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa

✍ Scribed by Napier, Maria L.; Durga, Dash; Wolsley, Clive J.; Chamney, Sarah; Alexander, Sharon; Brennan, Rosie; Simpson, David A.; Silvestri, Giuliana; Willoughby, Colin E.


Book ID
126652834
Publisher
Informa plc
Year
2014
Tongue
English
Weight
319 KB
Volume
36
Category
Article
ISSN
1381-6810

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel null mutation in the rhodopsin g
✍ Beatriz SΓ‘nchez; Salud Borrego; Pedro Chaparro; Trinidad Rueda; Francisca LΓ³pez; πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 109 KB

Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene. We have identified a new missense rhodopsin mutation. namely A346P, which cosegregates with the disease phenotype in one Spanish f