Faugère, Valérie <br/><br/>
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.  [electronic resource] 

 -  BMC genetics  Jan 2003 
 - 1 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2156 
<br/><br/><label>Standard No.: </label>10.1186/1471-2156-4-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Albinism, Ocular--diagnosis<br/>Child<br/>Chromosomes, Human, X--genetics<br/>Computer Systems<br/>Diagnostic Errors<br/>Exons--genetics<br/>Eye Proteins--genetics<br/>Female<br/>Gene Dosage<br/>Genetic Carrier Screening--methods<br/>Genetic Markers--genetics<br/>Humans<br/>Male<br/>Membrane Glycoproteins--genetics<br/>Mutation--genetics<br/>Nystagmus, Congenital--diagnosis<br/>Pedigree<br/>Polymerase Chain Reaction--methods