Donoso, Larry A <br/><br/>
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.  [electronic resource] 

 -  American journal of ophthalmology  Nov 2002 
 - 720-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9394 
<br/><br/><label>Standard No.: </label>10.1016/s0002-9394(02)01638-0  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Codon, Terminator--genetics<br/>Cohort Studies<br/>Collagen Type II--genetics<br/>Connective Tissue Diseases--diagnosis<br/>DNA Mutational Analysis<br/>Exons<br/>Eye Diseases, Hereditary--genetics<br/>Female<br/>Genetic Linkage<br/>Humans<br/>Incidence<br/>Male<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Retinal Degeneration--diagnosis<br/>Retinal Detachment--diagnosis<br/>Sequence Analysis, DNA<br/>Syndrome<br/>Vitreous Body--pathology