ALS Linked Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export

abstract: Exome sequencing was used to identify novel variants linked to amyotrophic lateral sclerosis (ALS), in a family without mutations in genes previously linked to ALS. A F115C mutation in the gene MATR3 was identified, and further examination of other ALS kindreds identified an additional thr...

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Bibliographic Details
Other Authors: Boehringer, Ashley (Author)
Format: Doctoral Thesis
Language:English
Published: 2018
Subjects:
ALS
Online Access:http://hdl.handle.net/2286/R.I.48483