Hilton, E N <br/><br/>
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.  [electronic resource] 

 -  The British journal of ophthalmology  Aug 2007 
 - 1083-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0007-1161 
<br/><br/><label>Standard No.: </label>10.1136/bjo.2006.103283  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Corneal Dystrophies, Hereditary--genetics<br/>DNA Mutational Analysis<br/>Extracellular Matrix Proteins--genetics<br/>Female<br/>Humans<br/>Male<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Transforming Growth Factor beta--genetics