Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing.

Autor: Klimiankou M; Division of Translation Oncology, Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tübingen., Tesakov I; Division of Translation Oncology, Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tübingen., Tsaknakis G; Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete., Boutakoglou E; Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete., Mavroudi I; Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete., Ritter M; Division of Translation Oncology, Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tübingen., Sturm M; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen., Skokowa J; Division of Translation Oncology, Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tübingen., Papadaki HA; Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete. e.papadaki@uoc.gr.
Jazyk: angličtina
Zdroj: Haematologica [Haematologica] 2024 Aug 01. Date of Electronic Publication: 2024 Aug 01.
DOI: 10.3324/haematol.2024.285569
Abstrakt: Not available.
Databáze: MEDLINE