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Article

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

European journal of human genetics : EJHG - 1 Jul 2010

Aller Elena, Larrieu Lise, Jaijo Teresa, Baux David, Espinós Carmen, González-Candelas Fernando, Nájera Carmen, Palau Francesc, Claustres Mireille, Roux Anne-Françoise, Millán José M

Abstract excerpt

Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of an interactome that has an essential role in the development and function of inner...

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Identifiers

PMID: 20145675
DOI: 10.1038/ejhg.2010.14
PMCID: PMC2987359

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20145675-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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