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GATA1 gene exon 2 mutation
Clinical significance:
- GATA1 gene mutations are the cause of:
a) X-linked dyserythropoietic anemia & thrombocytopenia
b) X-linked thrombocytopenia with beta-thalassemia
Related
GATA binding factor-1; erythroid transcription factor GATA-1 (ERYF1, GF-1, NF-E1, GATA1)
General
gene mutation testing; gene mutation analysis
References
Loinc