Arning, Larissa <br/><br/>
Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).  [electronic resource] 

 -  Neurogenetics  Oct 2008 
 - 295-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-008-0139-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alu Elements<br/>Apraxias--complications<br/>Base Sequence<br/>Brain--pathology<br/>DNA--genetics<br/>DNA Helicases<br/>DNA Mutational Analysis<br/>Exons<br/>Gene Duplication<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Multifunctional Enzymes<br/>Phenotype<br/>RNA Helicases--genetics<br/>Spinocerebellar Degenerations--complications