Wattenhofer, Marie <br/><br/>
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.  [electronic resource] 

 -  Human genetics  Oct 2005 
 - 528-35 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/s00439-005-1332-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Chromosomes, Human, Pair 21<br/>Deafness--genetics<br/>Female<br/>Genetic Linkage<br/>Haplotypes<br/>Humans<br/>Lod Score<br/>Male<br/>Membrane Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Neoplasm Proteins--genetics<br/>Pedigree<br/>Serine Endopeptidases--genetics