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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 12/12/2008 |
Symbol | CD59D |
Location | 11p13 |
Name | CD59 deficiency |
Corresponding gene | CD59 |
Main clinical features | hemoglobinuria, paroxysmal, nocturnal, rare inherited form associated or not with aplastic anemia, with intravascular hemolysis and thrombosis |
Genetic determination | autosomal recessive |
Function/system disorder | defense and immunity |
Type | disease |
Gene product |
Name | membrane inhibitor of reactive lysis (MIRL/HRF20) |
Remark(s) |