NMNAT1 mutations cause Leber congenital amaurosis.
NMNAT1基因突变会导致莱伯氏先天性黑蒙症
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.2361
Falk Marni J, Zhang Qi, Nakamaru-Ogiso Eiko, Kannabiran Chitra, Fonseca-Kelly Zoe, Chakarova Christina, Audo Isabelle, Mackay Donna S, Zeitz Christina, Borman Arundhati Dev, Staniszewska Magdalena, Shukla Rachna, Palavalli Lakshmi, Mohand-Said Saddek, Waseem Naushin H, Jalali Subhadra, Perin Juan C, Place Emily, Ostrovsky Julian, Xiao Rui, Bhattacharya Shomi S, Consugar Mark, Webster Andrew R, Sahel José-Alain, Moore Anthony T, Berson Eliot L, Liu Qin, Gai Xiaowu, Pierce Eric A