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Article

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.

European journal of human genetics : EJHG - 1 Jan 2018

Mustonen Tuuli, Schmidt Eeva-Kaisa, Valori Miko, Tienari Pentti J, Atula Sari, Kiuru-Enari Sari

Abstract excerpt

Finnish gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominantly inherited systemic disorder with ophthalmologic, neurologic and dermatologic symptoms. Only the gelsolin (GSN) c.640G>A variant has been found in the Finnish patients thus far. The purpose of this study was to examine whether the Finnish patients have a common ancestor or whether multiple mutation events have occurred at c.640G, which is a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 29167514
DOI: 10.1038/s41431-017-0026-x
PMCID: PMC5838978

Genes

GSN

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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