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

The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing lo...

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Udgivet i:Brain
Main Authors: Kullar, Peter J, Gomez-Duran, Aurora, Gammage, Payam A, Garone, Caterina, Minczuk, Michal, Golder, Zoe, Wilson, Janet, Montoya, Julio, Häkli, Sanna, Kärppä, Mikko, Horvath, Rita, Majamaa, Kari, Chinnery, Patrick F
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2018
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Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5837410/
https://ncbi.nlm.nih.gov/pubmed/29182774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awx295
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