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Base editing corrects the common Salla disease SLC17A5 c.115C>T variant
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of the lysosome, leading to cellular dysfunction and neurological impairment, with the m...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society of Gene & Cell Therapy
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506058/ https://www.ncbi.nlm.nih.gov/pubmed/37727271 http://dx.doi.org/10.1016/j.omtn.2023.08.024 |