Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa
✍ Scribed by Gal, Andreas; Artlich, Andreas; Ludwig, Michael; Niemeyer, Günter; Olek, Klaus; Schwinger, Eberhard; Schinzel, Albert
- Book ID
- 121927084
- Publisher
- Elsevier Science
- Year
- 1991
- Tongue
- English
- Weight
- 763 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0888-7543
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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
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