Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Autor: Yanyan Peng, Shinde, Deepali N., Valencia, C. Alexander, Jun-Song Mo, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Zhuo Li, Jie Liu, Baoheng Gui, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L., Lewis, Andrea M., Scaglia, Fernando, Gril, Solange, Shuk Ching Chong, Bower, Matthew
Zdroj: Human Molecular Genetics; 12/15/2017, Vol. 26 Issue 24, p4937-4950, 14p
Databáze: Complementary Index