Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

著者: Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael Gonzalez, Ion John Campeanu, Laurie B. Griffin, Saskia Groenewald, Alleene V. Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar Abdul‐Rahman, Yaping Yang, Susan M. Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H. Németh, Valério Carelli, Taosheng Huang, Stephan Züchner, Julia E. Dallman - Nature Genetics 2015 被引用: 206