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

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 ea...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987359/
https://ncbi.nlm.nih.gov/pubmed/20145675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.14
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