Broekaert, Ilse Julia <br/><br/>
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.  [electronic resource] 

 -  Journal of medical genetics  09 2018 
 - 637-640 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2018-105262  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Carrier Proteins--genetics<br/>Fatal Outcome<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Membrane Proteins--genetics<br/>Mutation<br/>Protein-Losing Enteropathies--genetics<br/>Exome Sequencing