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Germline GATA2 Mutation and Bone Marrow Failure

GATA2 deficiency is an immunodeficiency and bone marrow failure disorder caused by pathogenic variants in GATA2 which lead to haploinsufficiency. It is inherited in an autosomal dominant pattern or can be due to de novo sporadic germline mutation. Patients commonly have B-, DC-, NK- and mono- cytope...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hematol Oncol Clin North Am
Prif Awduron: McReynolds, Lisa J., Calvo, Katherine R., Holland, Steven M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6128284/
https://ncbi.nlm.nih.gov/pubmed/30047422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hoc.2018.04.004
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