Fusco, Carmela <br/><br/>
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.  [electronic resource] 

 -  Human molecular genetics  07 2019 
 - 2133-2142 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddz046  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Proliferation<br/>Cell Survival<br/>Exostoses, Multiple Hereditary--genetics<br/>Female<br/>Genetic Association Studies<br/>Golgi Apparatus--enzymology<br/>HEK293 Cells<br/>Humans<br/>Male<br/>Mutation<br/>N-Acetylglucosaminyltransferases--analysis<br/>Exostosin 2<br/>Exostosin 1