Congenital amegakaryocytic thrombocytopenia
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations.
|
26854587 |
2016 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents.
|
20188141 |
2010 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As previously suggested, c-MPL mutation analysis in CAMT patients helps to predict the clinical course and to provide optimal therapy.
|
18090929 |
2007 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with CAMT.
|
10077649 |
1999 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
|
28859041 |
2018 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
|
19302922 |
2009 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
|
19302922 |
2009 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.
|
23625800 |
2013 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
|
18240171 |
2008 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
|
18024606 |
2007 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.
|
22180433 |
2012 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
|
19036112 |
2009 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.
|
18422784 |
2008 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.
|
18422784 |
2008 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia.
|
24438083 |
2014 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
|
21659346 |
2011 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |