López-Bigas, N <br/><br/>
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.  [electronic resource] 

 -  Human mutation  1999 
 - 520-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Audiometry<br/>Base Sequence<br/>Carrier Proteins--genetics<br/>Cochlea--abnormalities<br/>DNA--genetics<br/>Female<br/>Genes, Recessive<br/>Goiter--genetics<br/>Hearing Loss, Sensorineural--congenital<br/>Humans<br/>Male<br/>Membrane Transport Proteins<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>RNA Splicing--genetics<br/>Sulfate Transporters<br/>Syndrome