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Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

✍ Scribed by Qingjiong Zhang; Fareeha Zulfiqar; Xueshan Xiao; S. Amer Riazuddin; Zahoor Ahmad; Raphael Caruso; Ian MacDonald; Paul Sieving; Sheikh Riazuddin; J. Fielding Hejtmancik


Publisher
Springer
Year
2007
Tongue
English
Weight
457 KB
Volume
122
Category
Article
ISSN
0340-6717

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A novel null mutation in the rhodopsin g
✍ Beatriz SΓ‘nchez; Salud Borrego; Pedro Chaparro; Trinidad Rueda; Francisca LΓ³pez; πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 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