Capuano, Alessandra <br/><br/>
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.  [electronic resource] 

 -  Human mutation  Jan 2016 
 - 84-97 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22920  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Animals<br/>Biopsy<br/>Cell Line<br/>Cluster Analysis<br/>Computational Biology--methods<br/>Connective Tissue Diseases--diagnosis<br/>DNA Mutational Analysis<br/>Exome<br/>Female<br/>Gene Expression<br/>Genes, Dominant<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Membrane Glycoproteins--chemistry<br/>Mice<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Sequence Alignment<br/>Skin--pathology