Melki, Isabelle <br/><br/>
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.  [electronic resource] 

 -  Pediatrics  Apr 2013 
 - e1308-13 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1098-4275 
<br/><br/><label>Standard No.: </label>10.1542/peds.2012-2255  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Genetic Markers<br/>Hereditary Autoinflammatory Diseases--complications<br/>Homozygote<br/>Humans<br/>Hyperpigmentation--etiology<br/>Hypertrichosis--etiology<br/>Infant<br/>Male<br/>Mutation, Missense<br/>Nucleoside Transport Proteins--genetics