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Article

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Molecular vision - 1 Jan 2012

Jaijo Teresa, Oshima Aki, Aller Elena, Carney Carol, Usami Shin-ichi, Millán José M, Kimberling William J

Abstract excerpt

PURPOSE: PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of stereocilia bundles and in the function or preservation of photoreceptor cells. Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). The purpose of this work was to perform PCDH15 mutation screening to identify the genetic cause...

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Source

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Identifiers

PMID: 22815625
PMCID: PMC3398493

Genes

PCDH15
CDH23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.PMID 22815625Read ↗

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