A novel variation in the Twinkle linker region causing late-onset dementia

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