TY  - GEN
AU  - Bjornsdottir,Gyda
AU  - Ivarsdottir,Erna V
AU  - Bjarnadottir,Kristbjorg
AU  - Benonisdottir,Stefania
AU  - Gylfadottir,Sandra Sif
AU  - Arnadottir,Gudny A
AU  - Benediktsson,Rafn
AU  - Halldorsson,Gisli Hreinn
AU  - Helgadottir,Anna
AU  - Jonasdottir,Adalbjorg
AU  - Jonasdottir,Aslaug
AU  - Jonsdottir,Ingileif
AU  - Kristinsdottir,Anna Margret
AU  - Magnusson,Olafur Th
AU  - Masson,Gisli
AU  - Melsted,Pall
AU  - Rafnar,Thorunn
AU  - Sigurdsson,Asgeir
AU  - Sigurdsson,Gunnar
AU  - Skuladottir,Astros
AU  - Steinthorsdottir,Valgerdur
AU  - Styrkarsdottir,Unnur
AU  - Thorgeirsson,Gudmundur
AU  - Thorleifsson,Gudmar
AU  - Vikingsson,Arnor
AU  - Gudbjartsson,Daniel F
AU  - Holm,Hilma
AU  - Stefansson,Hreinn
AU  - Thorsteinsdottir,Unnur
AU  - Norddahl,Gudmundur L
AU  - Sulem,Patrick
AU  - Thorgeirsson,Thorgeir E
AU  - Stefansson,Kari
TI  - A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
SN  - 2041-1723
PY  - 2019///0528
KW  - Adult
KW  - Age of Onset
KW  - Aged
KW  - Axons
KW  - pathology
KW  - Case-Control Studies
KW  - Cell Line
KW  - Female
KW  - Follow-Up Studies
KW  - Genome-Wide Association Study
KW  - Homozygote
KW  - Humans
KW  - Iceland
KW  - epidemiology
KW  - Loss of Function Mutation
KW  - Male
KW  - Middle Aged
KW  - Neural Conduction
KW  - genetics
KW  - Peripherins
KW  - Polyneuropathies
KW  - Prevalence
KW  - RNA Splice Sites
KW  - RNA Splicing
KW  - physiology
KW  - Sural Nerve
KW  - physiopathology
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41467-019-09719-4
ER  -