Betsalel, Ofir T <br/><br/>
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.  [electronic resource] 

 -  Neurogenetics  Jul 2008 
 - 183-90 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-008-0125-5  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Base Sequence<br/>Cells, Cultured<br/>Chromatography, High Pressure Liquid<br/>DNA--blood<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Genes, X-Linked<br/>Germ-Line Mutation<br/>Humans<br/>Male<br/>X-Linked Intellectual Disability--blood<br/>Molecular Sequence Data<br/>Mosaicism<br/>Nerve Tissue Proteins--blood<br/>Nucleic Acid Denaturation<br/>Pedigree<br/>Plasma Membrane Neurotransmitter Transport Proteins--blood<br/>Sequence Deletion<br/>Sequence Homology, Amino Acid<br/>Transfection