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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 26/09/2005 |
Symbol | MASP2 |
Location | 1p36.3-p36.2 |
Name | mannan-binding lectin serine protease 2 deficiency |
Corresponding gene | MASP2 |
Main clinical features | susceptibility to infections and to the development of immunologic disease |
Genetic determination | autosomal recessive |
Function/system disorder | defense and immunity |
Type | disease |
Gene product |
Name | mannan-binding lectin serine protease 2 |