Condition: Congenital amegakaryocytic thrombocytopenia


rs1448812001 in MPL gene and Congenital amegakaryocytic thrombocytopenia PMID 25538044 2015 The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.

PMID 16470591 2006 MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

PMID 21489838 2011 A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

PMID 11133753 2001 c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

PMID 8073287 1994 Thrombocytopenia in c-mpl-deficient mice.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 11972523 2002 Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.

PMID 18240171 2008 Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

PMID 10971406 2000 Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.

PMID 28859041 2018 Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.

PMID 18422784 2008 In a previous study, we identified four missense mutations in CAMT patients, predicting Arg102Pro, Pro136His, Arg257Cys and Pro635Leu.

PMID 19302922 2009 Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.

PMID 17666371 2007 Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 19036112 2009 Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.

PMID 23625800 2013 Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.