De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

A germline heterozygous gain-of-function p.E527K variant in tyrosine kinase SRC was previously found to cause thrombocytopenia, myelofibrosis, bleeding, bone pathologies, premature edentulism and mild facial dysmorphia in nine patients of a single pedigree. Because of this variant, SRC loses its sel...

Full description

Bibliographic Details
Main Authors: Lore De Kock, Chantal Thys, Kate Downes, Daniel Duarte, Karyn Megy, Chris Van Geet, Kathleen Freson
Format: Article
Language:English
Published: Taylor & Francis Group 2019-10-01
Series:Platelets
Subjects:
platelet dysfunction
src
thrombocytopenia
tyrosine phosphorylation
Online Access:http://dx.doi.org/10.1080/09537104.2019.1628197

Internet

http://dx.doi.org/10.1080/09537104.2019.1628197

Similar Items