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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...
Enregistré dans:
| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group UK
2017
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| Sujets: | |
| Accès en ligne: | 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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