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Autor:
S. G. Mann, A. V. Poletaev, E.A. Seregina, S. A. Plyasunova, M. A. Kurnikova, D. V. Fedorova, D. M. Polokhov, A.V. Pshonkin, E. V. Raykina, P. A. Zharkov, A. O. Koposova
Publikováno v:
Pediatric Hematology/Oncology and Immunopathology. 20:126-131
Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this