Betsalel, Ofir T <br/><br/>
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.  [electronic resource] 

 -  Molecular genetics and metabolism  Apr 2012 
 - 596-601 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2011.12.022  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Blotting, Western<br/>Cells, Cultured<br/>DNA Mutational Analysis<br/>Female<br/>Fibroblasts--cytology<br/>Heterozygote<br/>Humans<br/>Male<br/>X-Linked Intellectual Disability--diagnosis<br/>Mutagenesis, Site-Directed<br/>Mutation, Missense--genetics<br/>Nerve Tissue Proteins--genetics<br/>Plasma Membrane Neurotransmitter Transport Proteins--genetics<br/>Real-Time Polymerase Chain Reaction