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Novel NMNAT1 mutations causing Leber congenital amaurosis identified


  • A Kaur

    Corresponding author
    • Department of Medical Genetics, Center of Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.
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NMNAT1 mutations cause Leber congenital amaurosis

Falk et al. (2012)

Nature Genetics 44: 1040–1045

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Koenekoop et al. (2012)

Nature Genetics 44: 1035–1039

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