De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Retinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis w...

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Bibliographic Details
Main Authors: Samuel P Strom, Michael J Clark, Ariadna Martinez, Sarah Garcia, Amira A Abelazeem, Anna Matynia, Sachin Parikh, Lori S Sullivan, Sara J Bowne, Stephen P Daiger, Michael B Gorin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4786330?pdf=render

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http://europepmc.org/articles/PMC4786330?pdf=render

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