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Mutation identification in A 5-generation pedigree with autosomal dominant retinitis pigmentosa

✍ Scribed by Teng Yun; Tian Hong; Wang Hui; Hu Xiaofeng; Wang Wei; Chen Yan; Yang Zhenrong


Publisher
Springer-Verlag
Year
2003
Tongue
Chinese
Weight
453 KB
Volume
23
Category
Article
ISSN
0510-9752

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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