Nota, Benjamin <br/><br/>
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.  [electronic resource] 

 -  Human mutation  Sep 2014 
 - 1128-35 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22609  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain Diseases, Metabolic, Inborn--genetics<br/>Cell Line<br/>Creatine--deficiency<br/>Extracellular Matrix--metabolism<br/>Fibroblasts--metabolism<br/>Gene Expression Profiling<br/>Gene Expression Regulation<br/>Humans<br/>Male<br/>Membrane Transport Proteins--genetics<br/>X-Linked Intellectual Disability--genetics<br/>Mutation<br/>Plasma Membrane Neurotransmitter Transport Proteins--deficiency<br/>Sequence Analysis, RNA<br/>Synapses--genetics