Hand, Collette K <br/><br/>
Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.  [electronic resource] 

 -  Ophthalmic genetics   
 - 148-151 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1744-5094 
<br/><br/><label>Standard No.: </label>10.3109/13816810.2016.1151901  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Anion Transport Proteins--genetics<br/>Antiporters--genetics<br/>Consanguinity<br/>Corneal Dystrophies, Hereditary--diagnosis<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Homozygote<br/>Humans<br/>Introns--genetics<br/>Ireland--epidemiology<br/>Male<br/>Middle Aged<br/>Mutation, Missense<br/>Pedigree<br/>Young Adult