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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Mol Genet
मुख्य लेखकों: Bonì, Francesco, Milani, Mario, Barbiroli, Alberto, Diomede, Luisa, Mastrangelo, Eloise, de Rosa, Matteo
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2018
विषय:
ऑनलाइन पहुंच: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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