Nellen, Ruud G L <br/><br/>
Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.  [electronic resource] 

 -  Experimental dermatology  Nov 2015 
 - 883-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1600-0625 
<br/><br/><label>Standard No.: </label>10.1111/exd.12786  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Humans<br/>Hyperkeratosis, Epidermolytic--genetics<br/>Keratin-1--genetics<br/>Male<br/>Phenotype