Li, Dong <br/><br/>
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.  [electronic resource] 

 -  European journal of human genetics : EJHG  Feb 2015 
 - 264-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2014.76  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Codon, Nonsense<br/>Exons<br/>Genes, Recessive<br/>Humans<br/>Limb Deformities, Congenital--diagnosis<br/>Male<br/>Matrix Metalloproteinase 13--genetics<br/>Osteochondrodysplasias--diagnosis<br/>Siblings