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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Lookup NU author(s): Dr Monika Olahova, Dr Steven Hardy, Maria-Eleni Anagnostou, Dr Kathryn White, Tracey Davey, Professor Robert Lightowlers, Professor Bobby McFarland, Professor Robert Taylor



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

Publication metadata

Author(s): Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZMA, McFarland R, Deshpande C, Bonnen PE, Taylor RW

Publication type: Article

Publication status: Published

Journal: Journal of Inherited Metabolic Disease

Year: 2017

Volume: 40

Issue: 1

Pages: 121-130

Print publication date: 01/01/2017

Online publication date: 30/09/2016

Acceptance date: 06/09/2016

Date deposited: 20/01/2017

ISSN (print): 0141-8955

ISSN (electronic): 1573-2665

Publisher: Springer Netherlands


DOI: 10.1007/s10545-016-9977-2


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