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  1. No Access

    Article

    NMNAT1 mutations cause Leber congenital amaurosis

    Eric Pierce, **aowu Gai and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration. NMNAT1 encodes an isoform of nicotinamide mononucleot...

    Marni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, Chitra Kannabiran… in Nature Genetics (2012)

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    Article

    The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

    Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital ence...

    Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee… in Nature Genetics (2006)