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Article

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Human mutation - 1 Mar 2010

Le Guédard-Méreuze Sandie, Vaché Christel, Baux David, Faugère Valérie, Larrieu Lise, Abadie Caroline, Janecke Andreas, Claustres Mireille, Roux Anne-Françoise, Tuffery-Giraud Sylvie

Abstract excerpt

Molecular diagnosis in Usher syndrome type 1 and 2 patients led to the identification of 21 sequence variations located in noncanonical positions of splice sites in MYO7A, CDH23, USH1C, and USH2A genes. To establish experimentally the splicing pattern of these substitutions, whose impact on splic...

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Identifiers

PMID: 20052763
DOI: 10.1002/humu.21193

Genes

CDH23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20052763-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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