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Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations
Natural mutations such as lysine 255 to glutamic acid (K to E), threonine 259 to isoleucine (T to I) and serine 262 to proline (S to P) that occur within the actin binding domain of alpha-actinin-4 (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) in affected huma...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820738/ https://www.ncbi.nlm.nih.gov/pubmed/31664084 http://dx.doi.org/10.1038/s41598-019-51825-2 |