Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA
Abstract Spinal muscular atrophy (SMA) results from SMN1 gene loss-of-function (LOF), with disease severity directly linked to the level of remaining SMN protein. Nusinersen, risdiplam, and onasemnogene abeparvovec are revolutionary treatments but should ideally be implemented before clinical sympto...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Springer Nature
2025-12-01
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| Sraith: | EMBO Molecular Medicine |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1038/s44321-025-00355-8 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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