Bolze, Alexandre <br/><br/>
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.  [electronic resource] 

 -  PloS one  2012 
 - e29708 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0029708  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Female<br/>Frameshift Mutation--genetics<br/>Histiocytosis--genetics<br/>Humans<br/>Male<br/>Nose Diseases--genetics<br/>Nucleoside Transport Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Biosynthesis--genetics<br/>RNA Isoforms--genetics<br/>RNA Splice Sites--genetics<br/>RNA, Untranslated--genetics<br/>Sequence Deletion<br/>Severity of Illness Index<br/>Siblings<br/>Young Adult