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A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

✍ Scribed by Kajiwara, Kazuto; Sandberg, Michael A.; Berson, Eliot L.; Dryja, Thaddeus P.


Book ID
109915361
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
590 KB
Volume
3
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