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A Case of Late Onset Retinitis Pigmentosa Without Retinal Findings

✍ Scribed by Boyle Kenneth; Albert D. Woods

Book ID
119338507
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
36 KB
Volume
80
Category
Article
ISSN
1529-1839

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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