Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. (2018)
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