Pagnamenta, Alistair T <br/><br/>
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.  [electronic resource] 

 -  Journal of human genetics  Jan 2012 
 - 70-2 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1435-232X 
<br/><br/><label>Standard No.: </label>10.1038/jhg.2011.128  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>1-Alkyl-2-acetylglycerophosphocholine Esterase--chemistry<br/>Amino Acid Sequence<br/>Base Sequence<br/>Child<br/>Classical Lissencephalies and Subcortical Band Heterotopias--genetics<br/>Exome--genetics<br/>Female<br/>Gene Frequency--genetics<br/>Humans<br/>Magnetic Resonance Imaging<br/>Microtubule-Associated Proteins--chemistry<br/>Molecular Sequence Data<br/>Mosaicism<br/>Sequence Analysis, DNA--methods