Toggle Main Menu Toggle Search

ePrints

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

Lookup NU author(s): Dr Charlotte Alston, Dr Ki Pang, Professor Bobby McFarland, Professor Robert Taylor

Downloads


Publication metadata

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

Journal: Human Mutation

Year: 2018

Pages: epub ahead of print

Online publication date: 03/01/2018

Acceptance date: 27/12/2017

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley and Sons Inc.

URL: https://doi.org/10.1002/humu.23396

DOI: 10.1002/humu.23396


Altmetrics

Altmetrics provided by Altmetric


Actions

    Link to this publication


Share