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Article

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

JAMA ophthalmology - 1 May 2015

Shankar Suma P, Birch David G, Ruiz Richard S, Hughbanks-Wheaton Dianna K, Sullivan Lori S, Bowne Sara J, Stone Edwin M, Daiger Stephen P

Abstract excerpt

IMPORTANCE: Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal dystrophies. The correction of missplicing is a potential therapeutic target. OBJECTIVE: To determine the prevalence, genetic origin, and molecular mechanism of a donor c.828+3A>T mutation in the PRPH2 (peripherin 2, retinal degeneration slow) gene in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

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Identifiers

PMID: 25675413
DOI: 10.1001/jamaophthalmol.2014.6115
PMCID: PMC4449732

Genes

PRPH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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