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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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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Mustonen, Tuuli, Schmidt, Eeva-Kaisa, Valori, Miko, Tienari, Pentti J, Atula, Sari, Kiuru-Enari, Sari
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
Matèries:
Accés en línia: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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