NMNAT1 mutations cause Leber congenital amaurosis
Nature Genetics（2012）
摘要
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 required for nicotinamide adenine dinucleotide (NAD + ) biosynthesis.
更多查看译文
关键词
Disease genetics,Neurodevelopmental disorders,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要