Navarro, Claire Laure <br/><br/>
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.  [electronic resource] 

 -  European journal of human genetics : EJHG  Aug 2014 
 - 1002-11 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2013.258  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Substitution<br/>Contracture--diagnosis<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Fetal Growth Retardation--diagnosis<br/>Founder Effect<br/>Genetic Association Studies<br/>Humans<br/>Introns<br/>Male<br/>Membrane Proteins--genetics<br/>Metalloendopeptidases--genetics<br/>Mutation<br/>Pedigree<br/>Progeria--diagnosis<br/>RNA Splice Sites<br/>Skin Abnormalities--diagnosis