Hanein, Sylvain <br/><br/>
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.  [electronic resource] 

 -  Human mutation  Oct 2002 
 - 322-3 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9067  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Blindness--congenital<br/>Cyclic GMP--metabolism<br/>Female<br/>Finland<br/>Founder Effect<br/>Guanine<br/>Guanylate Cyclase--genetics<br/>Humans<br/>Linkage Disequilibrium--genetics<br/>Male<br/>Mutation--genetics<br/>Nuclear Family<br/>Optic Atrophies, Hereditary--enzymology<br/>Pedigree<br/>Polymorphism, Single Nucleotide--genetics<br/>Sequence Deletion--genetics