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Article

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Investigative ophthalmology & visual science - 1 Feb 2017

Martin-Merida Inmaculada, Sanchez-Alcudia Rocio, Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Perez-Carro Raquel, Rodriguez-Jacy da Silva Luciana, Almoguera Berta, Garcia-Sandoval Blanca, Lopez-Molina Maria Isabel, Avila-Fernandez Almudena, Carballo Miguel, Corton Marta, Ayuso Carmen

Abstract excerpt

Purpose: The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge of the pathogenic mechanisms underlying the disease and to assess genotype-phenotype correlations. Methods: A cohort of 211 adRP patients was screened for variants in PRPF31 by using a combined strategy comprising next-generation sequencing...

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Source

Identifiers

PMID: 28192796
DOI: 10.1167/iovs.16-20515

Genes

PRPF31
MSR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.PMID 28192796Read ↗

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