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A mutation of the human EPHB2 gene leads to a major platelet functional defect.
Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M. Berrou E, et al. Among authors: rosa jp. Blood. 2018 Nov 8;132(19):2067-2077. doi: 10.1182/blood-2018-04-845644. Epub 2018 Sep 13. Blood. 2018. PMID: 30213874 Free article.
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.
Chen YP, Djaffar I, Pidard D, Steiner B, Cieutat AM, Caen JP, Rosa JP. Chen YP, et al. Among authors: rosa jp. Proc Natl Acad Sci U S A. 1992 Nov 1;89(21):10169-73. doi: 10.1073/pnas.89.21.10169. Proc Natl Acad Sci U S A. 1992. PMID: 1438206 Free PMC article.
103 results