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thrombocytopenia, congenital amegakaryocytic
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MPL
Thrombopoietin induces phosphoinositol 3-kinase activation through SHP2, Gab, and insulin receptor substrate proteins in BAF3 cells and primary murine megakaryocytes.
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
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MPL
Somatic tumors
MPN
Tumor types germline
MPN
Cancer Syndrom
familial essential thrombocythemia
Translocation partner
Name
myeloproliferative leukaemia virus oncogene, thrombopoietin receptor
Chromosome banding
1p34
Cancer molecular gen.
Dom
Mutation type
Mis
Other syndrome disease
Congenital amegakaryocytic thrombocytopenia
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