A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

Author:

Wehr Claudia12ORCID,Grotius Katja1,Casadei Silvia34,Bleckmann Dorothee1,Bode Sebastian F. N.15ORCID,Frye Björn C.6,Seidl Maximilian17,Gulsuner Suleyman34,King Mary-Claire34,Percival Mary-Beth8,Pritchard Colin C.9,Walsh Tom34,Wu David9,Keel Siobán8,Salzer Ulrich110ORCID

Affiliation:

1. Center for Chronic Immunodeficiency and

2. Department of Medicine I/Hematology, Oncology and Stem Cell Transplantation, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Germany;

3. Department of Medicine and

4. Department of Genome Sciences, University of Washington, Seattle, WA;

5. Center for Pediatrics, Department of General Pediatrics, Adolescent Medicine, and Neonatology,

6. Department of Pneumology, and

7. Institute for Surgical Pathology, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Germany;

8. Division of Hematology, Department of Medicine and

9. Department of Laboratory Medicine, University of Washington, Seattle, WA; and

10. Department of Rheumatology and Clinical Immunology, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Germany

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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