| Autor: |
Yilmaz, Pelinsu, Marek, Sarah-Jane, Valari, Manthoula, He, Yinghong, Has, Cristina |
| Zdroj: |
Journal of Investigative Dermatology; 20220101, Issue: Preprints |
| Abstrakt: |
Kindler epidermolysis bullosa is a genodermatosis that manifests with cutaneous and mucosal fragility, and with photosensitivity. No cure is available to date. Kindlin-1, the deficient protein binds to β intergrin and is required for its activation. Using a previously established experimental workflow we addressed the consequences of three naturally occurring mutations leading either to single amino acid substitutions, p.Y293D and p.W559R, or to a single amino acid deletion p.I623del in kindlin-1. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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