Laddar...

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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Mustonen, Tuuli, Schmidt, Eeva-Kaisa, Valori, Miko, Tienari, Pentti J, Atula, Sari, Kiuru-Enari, Sari
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2017
Ämnen:
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!