(PDF) Missense Mutation in the USH2A Gene: Association With

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

American Journal of Human Genetics - United States

doi 10.1086/302926

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June 1, 2000

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Elsevier BV

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

American Journal of Human Genetics - United States

doi 10.1086/302926

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

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

Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

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

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

Giant Retinal Tear and Retinal Detachment With Underlying Retinitis Pigmentosa and Hearing Loss