Cavallin, Mara <br/><br/>
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.  [electronic resource] 

 -  Neurogenetics  Jan 2016 
 - 79-82 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-015-0459-8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Child, Preschool<br/>Gene Frequency<br/>Humans<br/>Kinesins--chemistry<br/>Lissencephaly--diagnosis<br/>Magnetic Resonance Imaging<br/>Male<br/>Microcephaly--diagnosis<br/>Models, Molecular<br/>Mutation, Missense<br/>Protein Conformation