Boone, Philip M <br/><br/>
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.  [electronic resource] 

 -  American journal of human genetics  Aug 2014 
 - 143-61 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2014.06.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--genetics<br/>Alu Elements--genetics<br/>Base Sequence<br/>Cation Transport Proteins--genetics<br/>Cell Line, Transformed<br/>DNA Copy Number Variations--genetics<br/>Genotype<br/>Humans<br/>Protein Isoforms--genetics<br/>Recombinant Fusion Proteins--genetics<br/>Sequence Analysis, DNA<br/>Sequence Deletion<br/>Spastic Paraplegia, Hereditary--genetics<br/>Spastin