Tiffin, Heather R <br/><br/>
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.  [electronic resource] 

 -  Neurogenetics  May 2013 
 - 113-21 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-013-0359-8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Child<br/>Female<br/>Humans<br/>INDEL Mutation--genetics<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>LIM Domain Proteins--genetics<br/>Male<br/>Mitogen-Activated Protein Kinases--genetics<br/>Muscle Proteins--genetics<br/>Muscular Dystrophy, Emery-Dreifuss--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Isoforms--genetics