Article
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
Blood cells, molecules & diseases - 15 Jun 2011
Jalas Chaim, Anderson Sylvia L, Laufer Tova, Martimucci Kristina, Bulanov Alex, Xie Xie, Ekstein Josef, Rubin Berish Y
Abstract excerpt
Congenital amegakaryocytic thrombocytopenia (MIM #604498) (CAMT) is a rare inherited disease presenting as severe thrombocytopenia in infancy. Untreated, many CAMT patients develop aplastic anemia within the first decade of life; the only effective treatment of CAMT is bone marrow transplantation. CAMT is the result of the presence of homozygous or compound heterozygous mutations in the thrombopoietin...
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