Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, app
β¦ LIBER β¦
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
β Scribed by Swaroop, Anand; Bhattacharya, Shomi S.; Bessant, David A.R.; Payne, Annette M.; Mitton, Kenneth P.; Wang, Qing-Liang; Swain, Prabodha K.; Plant, Catherine; Bird, Alan C.; Zack, Donald J.
- Book ID
- 109828425
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 137 KB
- Volume
- 21
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/7678
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Retinitis pigmentosa (RP) is the most frequent form of inherited retinopathy. RP is genetically heterogeneous with autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) accounts for about 20-25% of all RP cases. At least ten adRP loci have so far