Vadrot, Nathalie <br/><br/>
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.  [electronic resource] 

 -  Human molecular genetics  Apr 2015 
 - 2096-109 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/ddu728  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Substitution<br/>Female<br/>Humans<br/>Lamin Type A--genetics<br/>Lipodystrophy, Familial Partial--genetics<br/>Male<br/>Middle Aged<br/>Mutation, Missense<br/>Protein Binding<br/>Sterol Regulatory Element Binding Protein 1--genetics<br/>Young Adult