Aldave, Anthony J <br/><br/>
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.  [electronic resource] 

 -  Archives of ophthalmology (Chicago, Ill. : 1960)  Mar 2008 
 - 371-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0003-9950 
<br/><br/><label>Standard No.: </label>10.1001/archopht.126.3.371  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Amyloid--metabolism<br/>Amyloidosis--diagnosis<br/>Corneal Dystrophies, Hereditary--diagnosis<br/>Corneal Stroma--metabolism<br/>DNA Mutational Analysis<br/>Exons<br/>Extracellular Matrix Proteins--genetics<br/>Female<br/>Gene Amplification<br/>Genetic Variation<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Sequence Analysis, DNA<br/>Transforming Growth Factor beta--genetics