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Browsing by Subject "C.2299delG"

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Browsing by Subject "C.2299delG"

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    The USH2A c.2299delG mutation: dating its common origin in a Southern European population. 
    Aller, Elena; Larrieu, Lise; Jaijo, Teresa; David Baux; Espinós-Armero, Carmen Ángeles; González-Candelas, Fernando; Nájera, Carmen; Palau, Francesc; Claustres, Mireille; Roux, Anne Françoise; Millán, José M. (Nature Publishing Group, 2010-07)
    [EN] 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 ...