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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| Format: | Doctoral Thesis |
| Language: | English |
| Published: |
2018
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| Online Access: | http://hdl.handle.net/2286/R.I.48483 |