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GENATLAS PHENOTYPE |
last update : 17-01-2009 |
Symbol | CDATX |
Location | Xp11.23 |
Name | dyserythropoietic anemia with thrombocytopenia |
Corresponding gene | GATA1 |
Main clinical features |
|
Genetic determination | sex linked |
Function/system disorder | hematology |
Type | disease |
Gene product |
Name | GATA binding protein 1 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| unknown
|  
|  
| mutations abrogating the interaction with FOG1 (ZFPM1)
| |
Remark(s) | amino acid substitution at codon 208 function not only regarding megakaryocyte but also regarding erythroid development |