Loss ‐of‐function mutations in ISCA2 disrupt 4Fe‐4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

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Source: Human Mutation - January 1, 2018 Category: Genetics & Stem Cells Authors: Joseph T. Alaimo, Arnaud Besse, Charlotte L. Alston, Ki Pang, Vivek Appadurai, Monisha Samanta, Patroula Smpokou, Robert McFarland, Robert W. Taylor, Penelope E. Bonnen Tags: RESEARCH ARTICLE Source Type: research