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Thrombocytopenia 3
- ... mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9415. Citation on ...
- ... BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 INTEGRIN, BETA-3; ITGB3 ... L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013 Feb;160( ...
- ... gene have been found to cause X-linked thrombocytopenia, a blood disorder characterized by a decrease in ... the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect the development of ...
- ... found to have a lower number of platelets (thrombocytopenia), a condition called GNE-related thrombocytopenia. When variants in the GNE gene reduce the ...
- ... have been found to cause dyserythropoietic anemia and thrombocytopenia. Most of these mutations change a single protein ... cells (anemia) and platelets involved in blood clotting (thrombocytopenia), which are characteristic features of dyserythropoietic anemia and ...
- ... red blood cells (autoimmune hemolytic anemia), platelets (autoimmune thrombocytopenia), or tissues in the digestive tract (autoimmune enteropathy). ... Response Factor signal transducer and activator of transcription 3 (acute-phase response factor) STAT3_HUMAN Tests of ...
- ... a low number of blood cells called platelets (thrombocytopenia) and consequent bleeding problems, a muscle disorder called ... to break down earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. ...
- ... problems, including a severely reduced amount of platelets (thrombocytopenia), early-onset renal disease, and hearing loss in ... lack of functional myosin-9, accounting for the thrombocytopenia seen in all individuals with MYH9-related disorder. ...