A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. [electronic resource]
Producer: 20171206Description: 653-659 p. digitalISSN:- 1432-1211
- B-Lymphocytes -- immunology
- Base Sequence
- CD3 Complex -- genetics
- Cell Proliferation
- Consanguinity
- Female
- Frameshift Mutation
- Gene Expression
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Homozygote
- Humans
- Infant
- Killer Cells, Natural -- immunology
- Male
- Pedigree
- Sequence Deletion
- Severe Combined Immunodeficiency -- genetics
- Siblings
- T-Lymphocytes -- immunology
- Turkey
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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