Ramser, Juliane <br/><br/>
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.  [electronic resource] 

 -  Human molecular genetics  Apr 2005 
 - 1019-27 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddi094  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alternative Splicing<br/>Amino Acid Sequence<br/>Enhancer Elements, Genetic<br/>Epilepsy--genetics<br/>Exons<br/>Female<br/>Humans<br/>Male<br/>X-Linked Intellectual Disability--genetics<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Receptors, Cell Surface--genetics<br/>Renin-Angiotensin System--genetics<br/>Vacuolar Proton-Translocating ATPases--genetics