Weedon, Michael N <br/><br/>
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.  [electronic resource] 

 -  American journal of human genetics  Aug 2011 
 - 308-12 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2011.07.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Animals<br/>Axons--pathology<br/>Charcot-Marie-Tooth Disease--genetics<br/>Child, Preschool<br/>Cytoplasmic Dyneins--genetics<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Genes, Dominant--genetics<br/>Humans<br/>Male<br/>Mice<br/>Mutation--genetics<br/>Pedigree<br/>Young Adult