A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

Abstract Background Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA...

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Bibliographic Details
Main Authors: Concetta Scimone, Luigi Donato, Teresa Esposito, Carmela Rinaldi, Rosalia D’Angelo, Antonina Sidoti
Format: Article
Language:English
Published: BMC 2017-08-01
Series:Human Genomics
Subjects:
Retinitis punctata albescens
RLBP1
Frameshift mutation
Population study
Geographical-area related mutation
RP mutation spectrum
Online Access:http://link.springer.com/article/10.1186/s40246-017-0114-6

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