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Article

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

PloS one - 1 Jan 2013

Aparisi María José, García-García Gema, Aller Elena, Sequedo María Dolores, Martínez-Fernández de la Cámara Cristina, Rodrigo Regina, Armengot Miguel, Cortijo Julio, Milara Javier, Díaz-LLopis Manuel, Jaijo Teresa, Millán José María

Abstract excerpt

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighteen USH1 putative splicing variants found in our...

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Source

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Identifiers

PMID: 23451239
DOI: 10.1371/journal.pone.0057506
PMCID: PMC3581446

Genes

CDH23
PCDH15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23451239-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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