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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Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha: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
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