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Article

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

International journal of molecular sciences - 22 Jan 2021

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

Abstract excerpt

Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of seven members of a two-generation family. Exome sequencing was performed in the proband, and targeted Sanger...

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Share to Amyloid Neuropathies, Familial
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33499149
DOI: 10.3390/ijms22031084
PMCID: PMC7865823

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