Masliah-Planchon, Julien <br/><br/>
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.  [electronic resource] 

 -  BMC medical genetics  Sep 2015 
 - 77 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-015-0226-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Chromosomes, Human, Pair 1--genetics<br/>Female<br/>Gene Duplication--genetics<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Magnetic Resonance Imaging<br/>Microarray Analysis<br/>Mutagenesis, Insertional--genetics<br/>Myelin Proteolipid Protein--genetics<br/>Pelizaeus-Merzbacher Disease--genetics<br/>X Chromosome Inactivation--genetics