Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

van Oorschot, Rinske; Marneth, Anna E; Bergevoet, Saskia M; van Bergen, Maaike GJM; Peerlinck, Kathelijne; Lentaigne, Claire E; Millar, Carolyn M; Westbury, Sarah K; Favier, Remi; Erber, Wendy N; Turro, Ernest; Jansen, Joop H; Ouwehand, Willem H; McKinney, Harriet L; Downes, Kate; Freson, Kathleen; van der Reijden, Bert A

doi:10.3324/haematol.2018.207712

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Author:

van Oorschot, Rinske

Marneth, Anna E ; Bergevoet, Saskia M ; van Bergen, Maaike GJM ; Peerlinck, Kathelijne ; Lentaigne, Claire E ; Millar, Carolyn M ; Westbury, Sarah K ; Favier, Remi ; Erber, Wendy N ; Turro, Ernest ; Jansen, Joop H ; Ouwehand, Willem H ; McKinney, Harriet L ; Downes, Kate ; Freson, Kathleen ; van der Reijden, Bert A

Keywords:

Science & Technology, Life Sciences & Biomedicine, Hematology, CD34 EXPRESSION, MUTATION, DEFICIENCY, GFI-1B, Alleles, Disease Susceptibility, Gene Expression, Genetic Association Studies, Genotype, Hemorrhagic Disorders, Humans, Mutation, Missense, Pedigree, Proto-Oncogene Proteins, Repressor Proteins, NIHR BioResource Collaborative Group, Disorders of Platelet Function, GFI1B, Platelets, 1102 Cardiorespiratory Medicine and Haematology, Immunology, 3201 Cardiovascular medicine and haematology