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Molecular basis of a novel renal amyloidosis due to N184K gelsolin variant

Mutations in gelsolin are responsible for a systemic amyloidosis first described in 1969. Until recently, the disease was associated with two substitutions of the same residue, leading to the loss of the calcium binding site. Novel interest arose in 2014 when the N184K variant of the protein was ide...

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Podrobná bibliografie
Vydáno v:Sci Rep
Hlavní autoři: Bonì, Francesco, Milani, Mario, Porcari, Riccardo, Barbiroli, Alberto, Ricagno, Stefano, de Rosa, Matteo
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5025852/
https://ncbi.nlm.nih.gov/pubmed/27633054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33463
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