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Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

✍ Scribed by Pierce, Eric A.; Quinn, Tracey; Meehan, Terrence; McGee, Terri L.; Berson, Eliot L.; Dryja, Thaddeus P.


Book ID
109465345
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
632 KB
Volume
22
Category
Article
ISSN
1061-4036

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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