𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

✍ Scribed by Gunnar Grüning; José M. Millan; Moritz Meins; Magdalena Beneyto; Manuel Caballero; Eckart Apfelstedt-Sylla; Rosabel Bosch; Eberhart Zrenner; Felix Prieto; Andreas Gal


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
335 KB
Volume
3
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Adult vitelliform macular dystrophy is f
✍ Ute Felbor; Harald Schilling; Bernhard H. F. Weber 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 239 KB 👁 2 views

Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as re

A novel null mutation in the rhodopsin g
✍ Beatriz Sánchez; Salud Borrego; Pedro Chaparro; Trinidad Rueda; Francisca López; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 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

Mutations P51U and G122E in retinal tran
✍ María Martinez-Gimeno; Miquel Maseras; Montserrat Baiget; Magdalena Beneito; Gil 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

Retinitis pigmentosa (RP) is the most frequent form of inherited retinopathy. RP is genetically heterogeneous with autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) accounts for about 20-25% of all RP cases. At least ten adRP loci have so far