Rodríguez-García, María Elena <br/><br/>
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.  [electronic resource] 

 -  Neurogenetics  Jan 2016 
 - 51-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1364-6753 
<br/><br/><label>Standard No.: </label>10.1007/s10048-015-0463-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Biological Transport--genetics<br/>Brain Diseases, Metabolic, Inborn--genetics<br/>Carboxylic Ester Hydrolases--chemistry<br/>Catalytic Domain--genetics<br/>Child<br/>Cholesterol--metabolism<br/>Consanguinity<br/>Humans<br/>Intracellular Space--metabolism<br/>Lipase--chemistry<br/>Lipid Metabolism, Inborn Errors--genetics<br/>Male<br/>Mutation, Missense<br/>Neurodegenerative Diseases--genetics<br/>Protein Structure, Tertiary--genetics