McLaughlin, Heather M <br/><br/>
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.  [electronic resource] 

 -  BMC medical genetics  Jul 2013 
 - 68 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/1471-2350-14-68  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Base Sequence<br/>Cardiomyopathies--genetics<br/>Cardiomyopathy, Dilated--genetics<br/>Desmin--genetics<br/>Family<br/>Female<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Genetic Variation<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Male<br/>Muscular Dystrophies--genetics<br/>Mutation<br/>Pedigree<br/>Sequence Alignment<br/>Sequence Analysis, DNA