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Novel NMNAT1 mutations causing Leber congenital amaurosis identified |
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| Authors: | A Kaur |
| Abstract: | 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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