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

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Authors: Peter J Kullar, Aurora Gomez-Duran, Payam A Gammage, Caterina Garone, Michal Minczuk, Zoe Golder, Janet Wilson, Julio Montoya, Sanna Häkli, Mikko Kärppä, Rita Horvath, Kari Majamaa, Patrick F Chinnery

Journal title: Brain

Journal number: 141/1

Journal publisher: Oxford University Press

Published year: 2017

Published pages: 55-62

DOI identifier: 10.1093/brain/awx295

ISSN: 0006-8950