Cortese, Andrea <br/><br/>
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.  [electronic resource] 

 -  Nature genetics  04 2019 
 - 649-658 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>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/s41588-019-0372-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Alleles<br/>Ataxia--genetics<br/>Cerebellar Ataxia--genetics<br/>Humans<br/>Introns--genetics<br/>Male<br/>Middle Aged<br/>Repetitive Sequences, Nucleic Acid--genetics<br/>Replication Protein C--genetics<br/>Whole Genome Sequencing--methods