Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

SIMPLE SUMMARY: Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel mutation of GSN gene, p.Glu580Lys, associated with...

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Gepubliceerd in:Int J Mol Sci
Hoofdauteurs: Potrč, Maja, Volk, Marija, de Rosa, Matteo, Pižem, Jože, Teran, Nataša, Jaklič, Helena, Maver, Aleš, Drnovšek-Olup, Brigita, Bollati, Michela, Vogelnik, Katarina, Hočevar, Alojzija, Gornik, Ana, Pfeifer, Vladimir, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2021
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7865823/
https://ncbi.nlm.nih.gov/pubmed/33499149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22031084
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