A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders and find a low-frequency splice-donor variant...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Nat Commun
Main Authors: Bjornsdottir, Gyda, Ivarsdottir, Erna V., Bjarnadottir, Kristbjorg, Benonisdottir, Stefania, Gylfadottir, Sandra Sif, Arnadottir, Gudny A., Benediktsson, Rafn, Halldorsson, Gisli Hreinn, Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Kristinsdottir, Anna Margret, Magnusson, Olafur Th., Masson, Gisli, Melsted, Pall, Rafnar, Thorunn, Sigurdsson, Asgeir, Sigurdsson, Gunnar, Skuladottir, Astros, Steinthorsdottir, Valgerdur, Styrkarsdottir, Unnur, Thorgeirsson, Gudmundur, Thorleifsson, Gudmar, Vikingsson, Arnor, Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Hreinn, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Sulem, Patrick, Thorgeirsson, Thorgeir E., Stefansson, Kari
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6468012/
https://ncbi.nlm.nih.gov/pubmed/30992453
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-09719-4
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker