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A mutation of the human EPHB2 gene leads to a major platelet functional defect.
Eliane Berrou, Christelle Soukaseum, Rémi Favier, Frédéric Adam, Ziane Elaib, Alexandre Kauskot, Jean-Claude Bordet, Paola Ballerini, Stephane Loyau, Miao Feng, Karine Dias, Abbas Muheidli, Stephane Girault, Alan T Nurden, Ernest Turro, Willem H Ouwehand, Cécile V Denis, Martine Jandrot-Perrus, Jean-Philippe Rosa, Paquita Nurden, Marijke Bryckaert
Nov 22, 2018
The ephrin transmembrane receptor family of tyrosine kinases is involved in platelet function. We report the first EPHB2 variant affecting platelets in 2 siblings (P1 and P2) from a consanguineous family with recurrent bleeding...