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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468012/
https://www.ncbi.nlm.nih.gov/pubmed/30992453
http://dx.doi.org/10.1038/s41467-019-09719-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468012/
https://www.ncbi.nlm.nih.gov/pubmed/30992453
http://dx.doi.org/10.1038/s41467-019-09719-4

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