Condition: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
rs121965062 in
SERPINF2 gene and
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
PMID 2572590 1989 Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.
PMID 10583218 1999 A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency.