Mignot, Cyril <br/><br/>
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.  [electronic resource] 

 -  Brain & development  Feb 2013 
 - 172-6 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1872-7131 
<br/><br/><label>Standard No.: </label>10.1016/j.braindev.2012.03.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Ataxia--etiology<br/>Atrophy<br/>Cerebellar Diseases--genetics<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Disease Progression<br/>Electroencephalography<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>X-Linked Intellectual Disability--genetics<br/>Mutation--genetics<br/>Retinal Degeneration--etiology<br/>Retinitis Pigmentosa--genetics<br/>Sodium-Hydrogen Exchangers--genetics<br/>Syndrome<br/>Young Adult