Original paper
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey
Abstract
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, which is characterized by the dysfunction and/or absence of T lymphocytes. Early diagnosis of SCID is crucial for overall survival, and if it remains untreated, SCID is often fatal. Next-generation sequencing (NGS) has become a rapid, high-throughput technology, and has already been proven to be beneficial in medical diagnostics. In this study, a...
Paper Details
Title
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey
Published Date
Jun 9, 2017
Journal
Volume
69
Issue
10
Pages
653 - 659
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Notes
History