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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Lookup NU author(s): Dr Charlotte Alston, Dr Monika Olahova, Dr Langping He, Professor Bobby McFarlandORCiD, 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): Alston CL, Berti CC, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 2015

Volume: 134

Issue: 8

Pages: 869-879

Print publication date: 01/08/2015

Online publication date: 26/05/2015

Acceptance date: 16/05/2015

Date deposited: 16/07/2015

ISSN (print): 0340-6717

ISSN (electronic): 1432-1203

Publisher: Springer

URL: http://dx.doi.org/10.1007/s00439-015-1568-z

DOI: 10.1007/s00439-015-1568-z

PubMed id: PMC4495259

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Funding

Funder referenceFunder name
Lily Foundation
UK NHS Highly Specialised Commissioners
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease Research
NIHR-HCS-D12-03-04National Institute for Health Research (NIHR)
096919/Z/11/ZWellcome Trust

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