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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, Professor Janet Wilson, Professor Patrick Chinnery

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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

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press

URL: https://doi.org/10.1093/brain/awx295

DOI: 10.1093/brain/awx295


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