Schmidts, Miriam <br/><br/>
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.  [electronic resource] 

 -  Journal of medical genetics  May 2013 
 - 309-23 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2012-101284  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Cytoplasmic Dyneins--chemistry<br/>Ellis-Van Creveld Syndrome--genetics<br/>Exome--genetics<br/>Gene Components<br/>Humans<br/>Microscopy, Fluorescence<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Polymorphism, Single Nucleotide--genetics<br/>Protein Conformation<br/>Sequence Analysis, DNA