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Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization
Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases ranging from primary open angle glaucoma to cuticular age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese (ML). The R345W F3 mutation...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862258/ https://www.ncbi.nlm.nih.gov/pubmed/33542268 http://dx.doi.org/10.1038/s41598-020-79570-x |