Richard, Gabriele <br/><br/>
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.  [electronic resource] 

 -  American journal of human genetics  May 2002 
 - 1341-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/339986  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Connexin 26<br/>Connexins--genetics<br/>Cornea--metabolism<br/>Ectodermal Dysplasia--genetics<br/>Epithelium--metabolism<br/>Female<br/>Fluorescent Antibody Technique<br/>HeLa Cells<br/>Hearing Loss, Sensorineural--genetics<br/>Heterozygote<br/>Humans<br/>Ichthyosis--genetics<br/>Keratitis--genetics<br/>Male<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Transport<br/>Skin--metabolism<br/>Syndrome