Reinstein, E <br/><br/>
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.  [electronic resource] 

 -  Clinical genetics  Jan 2018 
 - 160-163 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13018  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Arabs<br/>Arthrogryposis--genetics<br/>Base Sequence<br/>Consanguinity<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Homozygote<br/>Humans<br/>Israel<br/>Male<br/>Mutation<br/>Pedigree<br/>Vesicular Transport Proteins--genetics<br/>Exome Sequencing--methods