Firtina, Sinem <br/><br/>
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.  [electronic resource] 

 -  Immunogenetics  10 2017 
 - 653-659 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1211 
<br/><br/><label>Standard No.: </label>10.1007/s00251-017-1005-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>B-Lymphocytes--immunology<br/>Base Sequence<br/>CD3 Complex--genetics<br/>Cell Proliferation<br/>Consanguinity<br/>Female<br/>Frameshift Mutation<br/>Gene Expression<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Homozygote<br/>Humans<br/>Infant<br/>Killer Cells, Natural--immunology<br/>Male<br/>Pedigree<br/>Sequence Deletion<br/>Severe Combined Immunodeficiency--genetics<br/>Siblings<br/>T-Lymphocytes--immunology<br/>Turkey