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Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype

Polina Stepensky1, Baerbel Keller2, Oded Shamriz3

  • 1Pediatric Hematology/Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Clinical Immunology (Orlando, Fla.)
|January 16, 2016
PubMed

Keywords:
JAK3Mis-splicing mutationsSCID

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