A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

The article discusses the study on a gain-of-function-mutation in universal tyrosine kinase SRC which causes bone pathologies, bleeding, myelofibrosis, and thrombocytopenia. The study reportedly involved genome sequencing and human phenotype ontology patient coding to identify the mutation. Also explored are the characteristics of the genetic defect.