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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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Nat Commun
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: Nature Publishing Group UK 2019
الموضوعات:
Article
الوصول للمادة أونلاين: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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