Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy
Abstract Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progressive myasthenia and muscle atrophy. Early treatm...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
BMC
2024-09-01
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| Sraith: | Human Genomics |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1186/s40246-024-00676-8 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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