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A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

✍ Scribed by Rosenfeld, Philip J.; Cowley, Glenn S.; McGee, Terri L.; Sandberg, Michael A.; Berson, Eliot L.; Dryja, Thaddeus P.


Book ID
109916183
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
573 KB
Volume
1
Category
Article
ISSN
1061-4036

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A novel null mutation in the rhodopsin g
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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