✦ LIBER ✦

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa

✍ Scribed by Beatriz Sánchez; Salud Borrego; Pedro Chaparro; Trinidad Rueda; Francisca López; Guillermo Antiñolo

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 109 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380070202

No coin nor oath required. For personal study only.

✦ Synopsis

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 family with adRP. Affected individuals in this family show onset 3f the disease with night blindness

📜 SIMILAR VOLUMES

Severe autosomal dominant retinitis pigm

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)

✍ David A.R. Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; Annette M. Payn 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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

Missense mutation A346P in the rhodopsin

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa

✍ Salud Borrego; Beatriz Sánchez; Agustín Ruiz; Guillermo Antiñolo 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 2 views

W179R: A novel missense mutation in the

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

✍ Corinne Bareil; Valérie Delague; Bernard Arnaud; Jacques Demaille; Christian Ham 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

A novel mutation within the rhodopsin ge

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

✍ Najma al-Jandal; G. Jane Farrar; Anna-Sophia Kiang; Marian M. Humphries; Noreen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 583 KB

More than 100 mutations within the rhodopsin gene have been found to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that may eventually result in total blindness. Congenital stationar

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

New mutation in the 3′-acceptor splice s

New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

✍ Carlos Reig; Ana-Isabel Alvarez; Isabel Tejada; Manuel Molina; Esteban Aróstegui 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB 👁 2 views