Mirabelli-Badenier, Marisol <br/><br/>
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.  [electronic resource] 

 -  Metabolic brain disease  Jun 2015 
 - 681-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-7365 
<br/><br/><label>Standard No.: </label>10.1007/s11011-014-9612-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Child, Preschool<br/>Homozygote<br/>Humans<br/>Italy<br/>Male<br/>Mucolipidoses--diagnosis<br/>Mutation--genetics<br/>Transient Receptor Potential Channels--deficiency<br/>White People--genetics