Nikopoulos, Konstantinos <br/><br/>
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.  [electronic resource] 

 -  Investigative ophthalmology & visual science  Jul 2011 
 - 4774-9 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-5783 
<br/><br/><label>Standard No.: </label>10.1167/iovs.10-7128  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Arthritis--diagnosis<br/>Collagen Type IX--genetics<br/>Connective Tissue Diseases--diagnosis<br/>DNA--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Predisposition to Disease<br/>Hearing Loss, Sensorineural--diagnosis<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Prognosis<br/>Retinal Detachment--diagnosis<br/>Tomography, Optical Coherence<br/>Visual Acuity