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

Bjornsdottir, Gyda

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. [electronic resource] - Nature communications 04 2019 - 1777 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

2041-1723

10.1038/s41467-019-09719-4 doi


Adult
Age of Onset
Aged
Axons--pathology
Case-Control Studies
Cell Line
Female
Follow-Up Studies
Genome-Wide Association Study
Homozygote
Humans
Iceland--epidemiology
Loss of Function Mutation
Male
Middle Aged
Neural Conduction--genetics
Peripherins--genetics
Polyneuropathies--epidemiology
Prevalence
RNA Splice Sites--genetics
RNA Splicing--physiology
Sural Nerve--physiopathology