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Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein
AGel amyloidosis is a genetic degenerative disease characterized by the deposition of insoluble gelsolin protein aggregates in different tissues. Until recently, this disease was associated with two mutations of a single residue (Asp187 to Asn/Tyr) in the second domain of the protein. The general op...
Autores principales: | Bonì, Francesco, Milani, Mario, Barbiroli, Alberto, Diomede, Luisa, Mastrangelo, Eloise, de Rosa, Matteo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886171/ https://www.ncbi.nlm.nih.gov/pubmed/29069428 http://dx.doi.org/10.1093/hmg/ddx383 |
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