Work

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

Year: 2018

Type: article

Abstract: TO THE EDITOR: Inherited and de novo heterozygous germ line mutations in GATA2 cause a pleotropic autosomal dominant genetic disorder characterized by cellular deficiencies with a high propensity for myeloid malignancy.[1][1],[2][2] The clinical syndromes of GATA2 deficiency include monocytopenia

Source: Blood

DOI: 10.1182/blood-2018-03-837336

Authors: Claudia Wehr, Katja Grotius, Silvia Casadei, Dorothee Bleckmann, Sebastian F. N. Bode, Björn C. Frye, Maximilian Seidl, Suleyman Gulsuner, Mary-Claire King, Mary-Beth Percival, Colin C. Pritchard, Tom Walsh, David Wu, Siobán Keel, Ulrich Salzer

Institutions: University of Freiburg, University Medical Center Freiburg, University of Washington

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Award: Translational Studies of Inherited Marrow Failure and Myelodysplastic Syndromes

OpenAlex ID: W2883978250

FWCI: 2.606

Cites: 22

Cited by: 30

Related to: 10