Auer-Grumbach, Michaela <br/><br/>
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.  [electronic resource] 

 -  Nature genetics  Feb 2010 
 - 160-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.508  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution--genetics<br/>Ankyrin Repeat<br/>Calcium--metabolism<br/>HeLa Cells<br/>Hereditary Sensory and Motor Neuropathy--complications<br/>Humans<br/>Immunohistochemistry<br/>Intracellular Space--metabolism<br/>Ion Channel Gating<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Muscular Atrophy, Spinal--complications<br/>Mutant Proteins--metabolism<br/>Mutation--genetics<br/>Osmosis<br/>TRPV Cation Channels--chemistry<br/>Transfection