Bjornsdottir, Gyda <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2041-1723 
<br/><br/><label>Standard No.: </label>10.1038/s41467-019-09719-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Aged<br/>Axons--pathology<br/>Case-Control Studies<br/>Cell Line<br/>Female<br/>Follow-Up Studies<br/>Genome-Wide Association Study<br/>Homozygote<br/>Humans<br/>Iceland--epidemiology<br/>Loss of Function Mutation<br/>Male<br/>Middle Aged<br/>Neural Conduction--genetics<br/>Peripherins--genetics<br/>Polyneuropathies--epidemiology<br/>Prevalence<br/>RNA Splice Sites--genetics<br/>RNA Splicing--physiology<br/>Sural Nerve--physiopathology