de Zwart-Storm, Eugene A <br/><br/>
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.  [electronic resource] 

 -  Experimental dermatology  May 2011 
 - 408-12 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1600-0625 
<br/><br/><label>Standard No.: </label>10.1111/j.1600-0625.2010.01222.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Asparagine--genetics<br/>Aspartic Acid--genetics<br/>Cell Membrane--metabolism<br/>Child<br/>Connexin 26<br/>Connexins--genetics<br/>Cytoplasm--metabolism<br/>Endoplasmic Reticulum--metabolism<br/>Female<br/>Fluoresceins--metabolism<br/>Gap Junctions--metabolism<br/>HeLa Cells<br/>Hearing Loss--genetics<br/>Humans<br/>Hypertrichosis--genetics<br/>Keratoderma, Palmoplantar--drug therapy<br/>Keratosis--drug therapy<br/>Lysine--genetics<br/>Male<br/>Mutation, Missense--physiology<br/>Nails, Malformed--genetics<br/>Protein Transport--genetics<br/>Skin--pathology<br/>Skin Diseases--drug therapy<br/>Syndrome<br/>Transfection<br/>Tyrosine--genetics