Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Abstract Background Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tu...

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Bibliographic Details
Main Authors: Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
Format: Article
Language:English
Published: BMC 2017-09-01
Series:International Journal of Retina and Vitreous
Subjects:
Retinitis pigmentosa
Retinal dystrophies genes
Next generation sequencing
Illumina platform
Molecular diagnosis
Online Access:http://link.springer.com/article/10.1186/s40942-017-0087-6

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http://link.springer.com/article/10.1186/s40942-017-0087-6

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