GFI1B variants associated with thrombocytopenia

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

(2017) Carlos R. Ferreira et al.   MOLECULAR GENETICS AND METABOLISM

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

(2016) Linda M. Polfus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia

(2016) K. Kitamura et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Transcriptional diversity during lineage commitment of human blood progenitors

(2014) L. Chen et al.   SCIENCE

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

(2013) W. S. Stevenson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gfi-1B controls human erythroid and megakaryocytic differentiation by regulating TGF-  signaling at the bipotent erythro-megakaryocytic progenitor stage

(2010) V. Randrianarison-Huetz et al.   BLOOD

Growth factor independent 1b (Gfi1b) and a new splice variant of Gfi1b are highly expressed in patients with acute and chronic leukemia

(2009) Lothar Vassen et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY