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A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Lookup NU author(s): Dr Monika Olahova, Dr Charlotte Alston, Jess Houghton, Dr Langping He, Dr Andrew Morris, Professor Bobby McFarlandORCiD, Emerita Professor Zofia Chrzanowska-LightowlersORCiD, Emeritus Professor Robert Lightowlers, Professor Robert TaylorORCiD

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

Publication metadata

Author(s): Olahova M, Haack TB, Alston CL, Houghton JAC, He L, Morris AAM, Brown GK, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Prokisch H, Taylor RW

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2015

Volume: 23

Issue: 7

Pages: 935-939

Print publication date: 01/07/2015

Online publication date: 08/10/2014

Acceptance date: 27/08/2014

Date deposited: 03/07/2015

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ejhg.2014.214

DOI: 10.1038/ejhg.2014.214

PubMed id: PMC4305338

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Funding

Funder referenceFunder name
Lily Foundation
UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service in Newcastle upon Tyne
01GM1113C/DBMBF-funded German Network for Mitochondrial Disorders (mitoNET)
01GM1207E-Rare project GENOMIT
096919/Z/11/ZWellcome Trust
G0601943MRC Centre for Neuromuscular Diseases
NIHR-HCS-D12-03-04NIHR/CSO Healthcare Science Research Fellowship from the National Institute for Health Research
096919/Z/11/ZWellcome Trust

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