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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 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): 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


DOI: 10.1007/s00439-015-1568-z

PubMed id: PMC4495259


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