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Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene

✍ Scribed by Kaja Kristine Selmer; Jan Grøndahl; Ruth Riise; Kristin Brandal; Øivind Braaten; Ragnheidur Bragadottir; Dag Erik Undlien


Book ID
118075629
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
342 KB
Volume
88
Category
Article
ISSN
1755-375X

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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