Validation of the Pathogenic Effect of <i>IGHMBP2</i> Gene Mutations Based on Yeast <i>S. cerevisiae</i> Model
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, <i>IGHMBP2</i>, is well defined,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-08-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/23/17/9913 |