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Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease

Lookup NU author(s): Dr Francesco Bruni, Professor Bobby McFarlandORCiD, Professor Zofia Chrzanowska-LightowlersORCiD, Dr Langping He, Professor Robert Taylor



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Bruni F, Di-Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2018

Volume: 39

Issue: 4

Pages: 563–578

Print publication date: 01/04/2018

Online publication date: 03/01/2018

Acceptance date: 28/12/2017

Date deposited: 12/01/2018

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: Wiley


DOI: 10.1002/humu.23398

PubMed id: 29314548


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Funder referenceFunder name
Wellcome Centre for Mitochondrial Research (203105/Z/16/Z)