Rosain, Jérémie <br/><br/>
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.  [electronic resource] 

 -  Journal of clinical immunology  07 2018 
 - 617-627 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1573-2592 
<br/><br/><label>Standard No.: </label>10.1007/s10875-018-0527-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Alu Elements<br/>Base Sequence<br/>Chromosome Mapping<br/>DNA Copy Number Variations<br/>Female<br/>Gene Expression<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Humans<br/>Interferon-gamma<br/>Interleukin-12 Receptor beta 1 Subunit--deficiency<br/>Male<br/>Mutation<br/>Mycobacterium Infections--diagnosis<br/>Pedigree<br/>Phenotype