Pera, Alejandra <br/><br/>
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.  [electronic resource] 

 -  Proceedings of the National Academy of Sciences of the United States of America  Nov 2008 
 - 18608-13 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1091-6490 
<br/><br/><label>Standard No.: </label>10.1073/pnas.0805831105  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Animals<br/>Cell Line<br/>Cohort Studies<br/>Genes, Recessive<br/>Genotype<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Membrane Transport Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation<br/>Open Reading Frames<br/>Phenotype<br/>Polymorphism, Genetic<br/>Sequence Homology, Amino Acid<br/>Sulfate Transporters<br/>Syndrome<br/>Vestibular Aqueduct--abnormalities