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Article

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

Human mutation - 1 Jun 2010

Vaché Christel, Besnard Thomas, Blanchet Catherine, Baux David, Larrieu Lise, Faugère Valérie, Mondain Michel, Hamel Christian, Malcolm Sue, Claustres Mireille, Roux Anne-Françoise

Abstract excerpt

We have shown that nasal ciliated epithelium, which can be easily biopsied under local anesthetic, provides a good source of RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2. Furthermore, the known or predicted effect on mRNA splicing of eight variants was faithfully reproduced in the...

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Source

Identifiers

PMID: 20513143
DOI: 10.1002/humu.21255

Genes

CDH23
PCDH15
WHRN

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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