Loss-of-function mutations in ISCA2...

Human Mutation 2018 / 01

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

Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23396
Date:
January, 2018
File:
PDF, 1020 KB
english, 2018
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