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

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 whet...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Mustonen, Tuuli, Schmidt, Eeva-Kaisa, Valori, Miko, Tienari, Pentti J, Atula, Sari, Kiuru-Enari, Sari
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838978/
https://ncbi.nlm.nih.gov/pubmed/29167514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0026-x
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