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Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

Lookup NU author(s): Dr Peter Kullar, Emerita Professor Janet WilsonORCiD, Professor Patrick Chinnery



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

Publication metadata

Author(s): Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Wilson JA, Majamaa K, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2018

Volume: 141

Issue: 1

Pages: 55-62

Print publication date: 01/01/2018

Online publication date: 22/11/2017

Acceptance date: 25/09/2017

Date deposited: 21/12/2017

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press


DOI: 10.1093/brain/awx295


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Funder referenceFunder name
Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/
Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z)
Wellcome Trust Clinical Research Training Fellow (101700/A/13/Z)
Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z)