Sergouniotis, Panagiotis I <br/><br/>
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.  [electronic resource] 

 -  American journal of human genetics  May 2014 
 - 760-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2014.04.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alleles<br/>Animals<br/>Carrier Proteins--genetics<br/>Female<br/>Genes, Recessive<br/>Genetic Variation<br/>Humans<br/>Male<br/>Mice<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Peptide Synthases--genetics<br/>Retinal Dystrophies--genetics