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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...

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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: Bonì, Francesco, Milani, Mario, Barbiroli, Alberto, Diomede, Luisa, Mastrangelo, Eloise, de Rosa, Matteo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886171/
https://ncbi.nlm.nih.gov/pubmed/29069428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx383
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