Maugeri, A <br/><br/>
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.  [electronic resource] 

 -  American journal of human genetics  Apr 1999 
 - 1024-35 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/302323  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATP-Binding Cassette Transporters--chemistry<br/>Amino Acid Sequence<br/>Base Sequence<br/>Cells, Cultured<br/>Corneal Dystrophies, Hereditary--epidemiology<br/>DNA Mutational Analysis<br/>Europe--epidemiology<br/>Exons--genetics<br/>Founder Effect<br/>Gene Frequency<br/>Genetic Predisposition to Disease--genetics<br/>Genotype<br/>Humans<br/>Incidence<br/>Linkage Disequilibrium--genetics<br/>Phenotype<br/>Point Mutation--genetics<br/>Polymorphism, Genetic--genetics<br/>RNA, Messenger--analysis<br/>Retinitis Pigmentosa--epidemiology