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JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long‐known gene
BACKGROUND: Mutations in the Janus Kinase 3 (JAK3) gene cause an autosomal recessive form of severe combined immunodeficiency (SCID) usually characterized by the absence of both T and NK cells, but preserved numbers of B lymphocytes (T‐B+NK‐SCID). The detection of larger (>100 bp) genomic duplica...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Genomic Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6160700/ https://ncbi.nlm.nih.gov/pubmed/30032486 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.391 |
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