In this issue of Blood, Lozano et al describe 3 patients, belonging to 2 unrelated families, with severe inherited platelet dysfunction and bleeding diathesis, displaying 2 novel homozygous mutations in RAS guanyl-releasing protein-2 (RASGRP2), the gene encoding calcium-and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI).(1)
Inherited CalDAG-GEFI deficiency / M. Cattaneo. - In: BLOOD. - ISSN 0006-4971. - 128:9(2016 Sep 01), pp. 1165-1167. [10.1182/blood-2016-07-719906]
Inherited CalDAG-GEFI deficiency
M. CattaneoPrimo
2016
Abstract
In this issue of Blood, Lozano et al describe 3 patients, belonging to 2 unrelated families, with severe inherited platelet dysfunction and bleeding diathesis, displaying 2 novel homozygous mutations in RAS guanyl-releasing protein-2 (RASGRP2), the gene encoding calcium-and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI).(1)
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