Dysprothrombinemia

07/01/2017 - "We study the phenotype and genotype of a novel gene mutation of factor II (FII) that leads to dysprothrombinemia, and do the meta-analysis to illuminate its molecular pathogenesis. "
11/01/2014 - "A novel congenital dysprothrombinemia leading to defective prothrombin maturation."
03/15/1998 - "This discordance in the functional and immunologic prothrombin levels was evidence for dysprothrombinemia. "
01/01/1978 - "Even fewer, six families, have been found to have a functionally abnormal prothrombin (dysprothrombinemia) in their blood. "
01/01/1976 - "On the contrary, in a congenital dysprothrombinemia (prothrombin Padua) a normal level was observed whereas the one-stage and two-stage methods yielded constantly levels of about 50% of normal."

01/01/2021 - "Dysprothrombinemia is the rarest inherited bleeding disorder that is characterized by a decrease in the prothrombin activity, but normal antigen levels. "
06/01/2009 - "Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. "
11/01/2003 - "However, prothrombin antigen/activity ratios indicate a dysprothrombinemia as well, most likely due to the inability of R457Q prothrombin to activate fully to thrombin."
09/01/2013 - "Two phenotypes can be distinguished: (1) true hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of the zymogen antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. "

10/01/2015 - "A case of pregnancy complicated with congenital dysprothrombinemia (prothrombin Tokushima)."
09/01/1987 - "[Dysprothrombinemia--with special reference to prothrombin Tokushima]."
12/01/1992 - "Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia."
12/01/1992 - "A single nucleotide substitution responsible for dysprothrombinemia of prothrombin Tokushima was detected, as were three polymorphisms. "

06/01/2009 - "Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. "
09/01/2013 - "Two phenotypes can be distinguished: (1) true hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of the zymogen antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. "

10/01/2015 - "It is beneficial to use prophylactic lyophilized human blood coagulation factor IX complex 800 U in pregnancies that are complicated by dysprothrombinemia. "
07/01/1989 - "Factor IX Chicago-2 and prothrombin Madrid were purified from patients with hemophilia B and congenital dysprothrombinemia, respectively. "

12/01/2000 - "The dysprothrombinemia mutations were inferred to directly affect catalytic function through their location at the active site crevice or exosite 1 within the serine protease domain."

10/01/1998 - "If discrepancies among the clotting assays are noted, particularly using viper venoms, a dysprothrombinemia should be suspected. "

11/01/2003 - "However, prothrombin antigen/activity ratios indicate a dysprothrombinemia as well, most likely due to the inability of R457Q prothrombin to activate fully to thrombin."

12/01/1992 - "A single nucleotide substitution responsible for dysprothrombinemia of prothrombin Tokushima was detected, as were three polymorphisms. "

09/01/2013 - "Two phenotypes can be distinguished: (1) true hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of the zymogen antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. "