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

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

Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk...

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Detaylı Bibliyografya
Asıl Yazarlar: Gyda Bjornsdottir, Erna V. Ivarsdottir, Kristbjorg Bjarnadottir, Stefania Benonisdottir, Sandra Sif Gylfadottir, Gudny A. Arnadottir, Rafn Benediktsson, Gisli Hreinn Halldorsson, Anna Helgadottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Ingileif Jonsdottir, Anna Margret Kristinsdottir, Olafur Th. Magnusson, Gisli Masson, Pall Melsted, Thorunn Rafnar, Asgeir Sigurdsson, Gunnar Sigurdsson, Astros Skuladottir, Valgerdur Steinthorsdottir, Unnur Styrkarsdottir, Gudmundur Thorgeirsson, Gudmar Thorleifsson, Arnor Vikingsson, Daniel F. Gudbjartsson, Hilma Holm, Hreinn Stefansson, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Patrick Sulem, Thorgeir E. Thorgeirsson, Kari Stefansson
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Nature Portfolio 2019-04-01
Seri Bilgileri:Nature Communications
Online Erişim:https://doi.org/10.1038/s41467-019-09719-4

Internet

https://doi.org/10.1038/s41467-019-09719-4

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