A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay. (2021)
Attributed to:
Exome sequencing in motor neuron disease: bioinformatic analyses and biological validation of novel variants
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.neurobiolaging.2021.05.009
PubMed Identifier: 34272080
Publication URI: http://europepmc.org/abstract/MED/34272080
Type: Journal Article/Review
Volume: 106
Parent Publication: Neurobiology of aging
ISSN: 0197-4580