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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



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

Publication metadata

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

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2016

Volume: 53

Issue: 9

Pages: 634-641

Print publication date: 01/09/2016

Online publication date: 18/04/2016

Acceptance date: 27/03/2016

Date deposited: 24/08/2016

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ


DOI: 10.1136/jmedgenet-2015-103576

PubMed id: 27091925


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Funder referenceFunder name
UK NHS Highly Specialised Commissioners
Early Career Grant from the Society for Endocrinology
Lily Foundation
01GM1207E-Rare project GENOMIT
01GM1113CGerman Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for mitochondrial disorders (mitoNET)
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease Research
NIHRHCS-D12-03-04National Institute for Health Research (NIHR) doctoral fellowship