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

Blood. 2018 Sep 13;132(11):1211-1215. doi: 10.1182/blood-2018-03-837336. Epub 2018 Jul 20.

Claudia Wehr^{1

2}, Katja Grotius¹, Silvia Casadei^{3

4}, Dorothee Bleckmann¹, Sebastian F N Bode^{1

5}, Björn C Frye⁶, Maximilian Seidl^{1

7}, Suleyman Gulsuner^{3

4}, Mary-Claire King^{3

4}, Mary-Beth Percival⁸, Colin C Pritchard⁹, Tom Walsh^{3

4}, David Wu⁹, Siobán Keel⁸, Ulrich Salzer^{1

10}

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.

No abstract available

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