✦ LIBER ✦

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

✍ Scribed by Sullivan, Lori S.; Heckenlively, John R.; Bowne, Sara J.; Zuo, Jian; Hide, Winston A.; Gal, Andreas; Denton, Michael; Inglehearn, Chris F.; Blanton, Susan H.; Daiger, Stephen P.

Book ID: 109465440
Publisher: Nature Publishing Group
Year: 1999
Tongue: English
Weight: 581 KB
Volume: 22
Category: Article
ISSN: 1061-4036
DOI: 10.1038/10314

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel null mutation in the rhodopsin g

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

✍ 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 in the human retinal degenerat

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

✍ Kajiwara, Kazuto; Hahn, Lauri B.; Mukai, Shizuo; Travis, Gabriel H.; Berson, Eli 📂 Article 📅 1991 🏛 Nature Publishing Group 🌐 English ⚖ 561 KB

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

Mutations in the human peripherin/RDS ge

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

✍ Gunnar Grüning; José M. Millan; Moritz Meins; Magdalena Beneyto; Manuel Caballer 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 335 KB

Mutations in a gene encoding a new oxyge

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

✍ Pierce, Eric A.; Quinn, Tracey; Meehan, Terrence; McGee, Terri L.; Berson, Eliot 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 632 KB

A mutation in NRL is associated with aut

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

✍ Swaroop, Anand; Bhattacharya, Shomi S.; Bessant, David A.R.; Payne, Annette M.; 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 137 KB