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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. (2018)

First Author: Kullar PJ

Attributed to: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awx295

PubMed Identifier: 29182774

Publication URI: http://europepmc.org/abstract/MED/29182774

Type: Journal Article/Review

Volume: 141

Parent Publication: Brain : a journal of neurology

Issue: 1

ISSN: 0006-8950