Condition: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA


rs104894808 in GATA1 gene and THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA PMID 11809723 2002 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.

PMID 10700180 2000 Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

PMID 11418466 2001 Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

PMID 11675338 2001 X-linked thrombocytopenia caused by a novel mutation of GATA-1.

PMID 22706301 2012 Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

PMID 16783379 2006 An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis.

PMID 24453067 2014 Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

PMID 23704091 2013 Analysis of disease-causing GATA1 mutations in murine gene complementation systems.