✦ LIBER ✦

Retinitis pigmentosa and mutations in rhodopsin

✍ Scribed by BHATTACHARYA, S

Book ID: 123289029
Publisher: The Lancet
Year: 1991
Tongue: English
Weight: 184 KB
Volume: 337
Category: Article
ISSN: 0140-6736
DOI: 10.1016/0140-6736(91)90858-M

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rhodopsin mutations in autosomal dominan

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

✍ Mai Al-Maghtheh; Cheryl Gregory; Chris Inglehearn; Alison Hardcastle; Shomi Bhat 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 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

Two new rhodopsin transversion mutations

Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa

✍ Mai Al-Maghtheh; Chris Inglehearn; Peter Lunt; Marcelle Jay; Alan Bird; Shomi Bh 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 344 KB

Ocular findings in patients with autosom

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and GIn344stop mutations of rhodopsin

✍ Stephan Kremmer; Anja Eckstein; Andreas Gal; Eckart Apfelstedt-Sylla; Heike Wede 📂 Article 📅 1997 🏛 Springer-Verlag 🌐 English ⚖ 811 KB

Mutation analysis of codons 345 and 347

Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients

✍ Madhurima Dikshit; Rakhi Agarwal 📂 Article 📅 2001 🏛 Indian Academy of Sciences 🌐 English ⚖ 66 KB

A Null mutation in the rhodopsin gene ca

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

✍ Rosenfeld, Philip J.; Cowley, Glenn S.; McGee, Terri L.; Sandberg, Michael A.; B 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 573 KB

Three novel mutations (P215L, T289P, and

Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

✍ María Martinez-Gimeno; María José Trujillo; Isabel Lorda; Ascensión Gimenez; Mar 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 1 views

Three novel mutations (P215L, T289P, and 3811