Anemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia.
|
11809723 |
2002 |
Macrothrombocytopenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Missense mutations in the N-terminal zinc finger (Nf) of GATA1 result in abnormal hematopoiesis, as documented in four families: the mutation V205M leads to both severe macrothrombocytopenia and dyserythropoietic anemia, D218G to macrothrombocytopenia and mild dyserythropoiesis without anemia, G208S to macrothrombocytopenia and R216Q to macrothrombocytopenia with beta-thalassemia.
|
11809723 |
2002 |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry.
|
17763153 |
2007 |
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Thrombocytopenia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia.
|
18041654 |
2007 |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.
|
11418466 |
2001 |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.
|
11809723 |
2002 |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
X-linked thrombocytopenia caused by a novel mutation of GATA-1.
|
11675338 |
2001 |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.
|
10700180 |
2000 |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.
|
11418466 |
2001 |