Mitsuhashi, Satomi <br/><br/>
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Dec 2013 
 - 975-80 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2013.08.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Chromosomal Proteins, Non-Histone--genetics<br/>Cytokines--metabolism<br/>DNA Mutational Analysis<br/>Exome--genetics<br/>Family Health<br/>Humans<br/>Male<br/>Muscular Dystrophy, Facioscapulohumeral--genetics<br/>Phenotype