Dieterich, Klaus <br/><br/>
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.  [electronic resource] 

 -  Human molecular genetics  Apr 2013 
 - 1483-92 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/dds514  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Arthrogryposis--embryology<br/>Central Nervous System--pathology<br/>Chromosome Mapping<br/>Consanguinity<br/>Embryonic Development--genetics<br/>Genes, Recessive<br/>Genetic Linkage<br/>Homozygote<br/>Humans<br/>Metalloendopeptidases--genetics<br/>Mice<br/>Motor Neurons--pathology<br/>Mutation<br/>Pedigree<br/>Phenotype