𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa

✍ Scribed by Rene Goliath; Soraya Bardien; Alison September; Rebecca Martin; Rajkumar Ramesar; Jacquie Greenberg


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
149 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Rhodopsin mutations in autosomal dominan
✍ Mai Al-Maghtheh; Cheryl Gregory; Chris Inglehearn; Alison Hardcastle; Shomi Bhat πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 605 KB

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, app

Severe autosomal dominant retinitis pigm
✍ David A.R. Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; Annette M. Payn πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 124 KB

Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of

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