Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution
Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathoge...
| Main Author: | |
|---|---|
| Other Authors: | , , , , |
| Format: | article |
| Language: | eng |
| Published: |
2020
|
| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.10/2390 |
| Country: | Portugal |
| Oai: | oai:repositorio.hff.min-saude.pt:10400.10/2390 |