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Article

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

Molecular vision - 1 Jan 2012

García-García Gema, Aparisi María J, Rodrigo Regina, Sequedo María D, Espinós Carmen, Rosell Jordi, Olea José L, Mendívil M Paz, Ramos-Arroyo María A, Ayuso Carmen, Jaijo Teresa, Aller Elena, Millán José M

Abstract excerpt

PURPOSE: To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene. METHODS: DNA samples of the affected members of our cohort of USH families were tested using an USH genotyping array, and/or genotyped with polymorphic markers specific for the USH3A locus. Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17...

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Identifiers

PMID: 23304067
PMCID: PMC3538041

Genes

CLRN1

Variants

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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