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...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Di Matteo, Gigliola, Chiriaco, Maria, Scarselli, Alessia, Cifaldi, Cristina, Livadiotti, Susanna, Di Cesare, Silvia, Ferradini, Valentina, Aiuti, Alessandro, Rossi, Paolo, Finocchi, Andrea, Cancrini, Caterina
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Original Articles
Accés en línia: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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