A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

Author: Gerber Sylvie   Perrault Isabelle   Hanein Sylvain   Shalev Stavit   Zlotogora Joel   Barbet Fabienne   Ducroq Dominique   Dufier Jean-Louis   Munnich Arnold   Rozet Jean-Michel   Kaplan Josseline  

Publisher: Informa Healthcare

ISSN: 1381-6810

Source: Ophthalmic Genetics, Vol.23, Iss.4, 2002-12, pp. : 225-235

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Abstract