Escámez, M J <br/><br/>
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.  [electronic resource] 

 -  The British journal of dermatology  Jul 2010 
 - 155-61 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1365-2133 
<br/><br/><label>Standard No.: </label>10.1111/j.1365-2133.2010.09713.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Collagen Type VII--genetics<br/>DNA Mutational Analysis--methods<br/>Epidermolysis Bullosa Dystrophica--genetics<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Humans<br/>Infant<br/>Mutation<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Severity of Illness Index<br/>Spain<br/>Young Adult