Ben Said, Mariem <br/><br/>
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.  [electronic resource] 

 -  International journal of pediatric otorhinolaryngology  Jun 2012 
 - 832-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1872-8464 
<br/><br/><label>Standard No.: </label>10.1016/j.ijporl.2012.02.053  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>Connexin 26<br/>Connexins--genetics<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Predisposition to Disease<br/>Genetic Testing--methods<br/>Genotype<br/>Goiter, Nodular--diagnosis<br/>Hearing Loss, Sensorineural--diagnosis<br/>Heterozygote<br/>Humans<br/>Male<br/>Membrane Transport Proteins--genetics<br/>Mutation<br/>Pedigree<br/>Polymorphism, Genetic<br/>Sulfate Transporters<br/>Tunisia<br/>Young Adult