Head and Neck Medicine by Alexandros G.Sfakianakis
Δευτέρα 7 Δεκεμβρίου 2020
Defective neutrophil development and specific granule deficiency caused by a homozygous splice site mutation in SMARCD2
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Defective neutrophil development and specific granule deficiency caused by a homozygous splice site mutation in SMARCD2
Via
Journal of Allergy and Clinical Immunology
Capsule summary: Here we provide the second report of human SMARCD2 deficiency leading to an immunodeficiency syndrome with impaired neutrophil development and function.
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