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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Lookup NU author(s): Dr Charlotte Alston, Dr Monika Olahova, Dr Steven Hardy, Dr Langping He, Professor Robert Taylor

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


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Author(s): Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW

Publication type: Article

Journal: Journal of Medical Genetics

Year: 2016

Volume: 53

Issue: 9

Pages: 634-641

Online publication date: 18/04/2016

Acceptance date: 27/03/2016

Print publication date: 01/09/2016

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ

URL: http://dx.doi.org/10.1136/jmedgenet-2015-103576

DOI: 10.1136/jmedgenet-2015-103576

PubMed id: 27091925


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