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Article

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Investigative ophthalmology & visual science - 1 May 2018

Martin-Merida Inmaculada, Aguilera-Garcia Domingo, Fernandez-San Jose P, Blanco-Kelly Fiona, Zurita Olga, Almoguera Berta, Garcia-Sandoval Blanca, Avila-Fernandez Almudena, Arteche Ana, Minguez Pablo, Carballo Miguel, Corton Marta, Ayuso Carmen

Abstract excerpt

Purpose: To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the molecular characterization rate, gene prevalence, and mutational spectrum in the largest European cohort reported to date. Methods: A total of 258 unrelated Spanish families with a clinical diagnosis of RP and suspected autosomal dominant inheritance...

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Source

Identifiers

PMID: 29847639
DOI: 10.1167/iovs.18-23854

Genes

PRPF31
CRX
PRPH2
RHO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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