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

  1. Lookup NU author(s)
  2. Dr Charlotte Alston
  3. Dr Ki Pang
  4. Professor Bobby McFarland
  5. Professor Robert Taylor
Author(s)Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, Mcfarland R, Taylor RW, Bonnen PE
Publication type Article
JournalHuman Mutation
Year2018
Volume
Issue
Pagesepub ahead of print
ISSN (print)1059-7794
ISSN (electronic)1098-1004
Full text is available for this publication:
PublisherJohn Wiley and Sons Inc.
URLhttps://doi.org/10.1002/humu.23396
DOI10.1002/humu.23396
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