(PDF) Exome Sequencing Identifies a Founder Frameshift

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss

PLoS ONE - United States

doi 10.1371/journal.pone.0051566

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December 12, 2012

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Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss

PLoS ONE - United States

doi 10.1371/journal.pone.0051566

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

Alternative Splicing Shapes the Phenotype of a Mutation inBBS8To Cause Nonsyndromic Retinitis Pigmentosa

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia