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In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1

Myoclonus epilepsy of type 1 (EPM1) is a rare monogenic progressive and degenerative epilepsy, also known under the name Unverricht-Lundborg disease. With the aim of comparing their behavior in vitro, wild-type (wt) human stefin B (cystatin B) and the G4R and the R68X mutants observed in EPM1 were e...

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Bibliografski detalji
Glavni autori: Rabzelj, Sabina, Turk, Vito, Žerovnik, Eva
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2005
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253288/
https://ncbi.nlm.nih.gov/pubmed/16155205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1110/ps.051609705
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