NMNAT1 mutations cause Leber congenital amaurosis
17:50 EDT 29 Jul 2012 | Nature Publishing
Eric Pierce, Xiaowu 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 mononucleotide adenylyltransferase, which is requ..
Original Article: NMNAT1 mutations cause Leber congenital amaurosis
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