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A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation

✍ Scribed by Kalyanasundaram, T S; Black, G C; O'Sullivan, J; Bishop, P N


Book ID
109852017
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
200 KB
Volume
23
Category
Article
ISSN
0950-222X

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Three novel RDS-peripherin mutations (68
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Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) fa