|
rs121918143
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs121918153
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs121918156
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs142742242
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs146922325
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs572021052
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Factor V G1691A mutation significantly increased the risk of neonatal HIE (OR 4.5, 95% CI 1.4-14.5, P = .012), while prothrombin G 20210A mutation and protein C deficiency were not.
|
26400660 |
2017 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
While FV G1691A and prothrombin G20210 A mutations show no significant data in our study, lipoprotein (a) levels >30 mg/dl protein C deficiency, anticardiolipin antibodies and combined prothrombotic disorders seem to be important risk factors for manifestation of ischaemic strokes in children with underlying cardiac disorders.
|
10650850 |
1999 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Four out of 14 patients with a single detect (hyperlipoproteinemia, heterozygous FV G1691A and prothrombin G20210A mutation, protein C deficiency type I) and all three patients with combined defects (heterozygous FV G1691A mutation combined with heterozygous prothrombin G20210A variant, protein S deficiency or hyperlipoproteinemia) suffered from CVL-related thrombosis.
|
10650856 |
1999 |
|
rs899127658
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The following frequencies (patients v controls), odds ratios (ORs), and confidence intervals (CIs) of single risk factors were found: Lp(a) >30 mg/dL (26.4% v 4.7%; OR/CI, 7.2/3.8 to 13.8; P <.0001), FV G1691A (20.2% v 4%; OR/CI, 6/2.97 to 12.1; P <.0001), protein C deficiency (6% v 0.67%; OR/CI, 9.5/2 to 44.6; P =.001), PT G20210A (6% v 1.3%; OR/CI, 4.7/1.4 to 15.6; P =.01), and the MTHFR TT677 genotype (23.6% v 10.4%; OR/CI, 2.4/1.53 to 4.5; P <.0001).
|
10572079 |
1999 |
|
rs1188383936
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All factors examined were more common in children with first AIS than in controls, and significantly so for protein C deficiency and the MTHFR C677T mutation.
|
15781933 |
2005 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All factors examined were more common in children with first AIS than in controls, and significantly so for protein C deficiency and the MTHFR C677T mutation.
|
15781933 |
2005 |
|
rs1188383936
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, combined prothrombotic defects were found in a further 10 patients: the FV mutation was combined with the prothrombin G20210A variant (n = 1), increased Lp(a) (n = 3), protein C deficiency (n = 1), and homozygosity for the C677T MTHFR gene mutation (n = 1).
|
10029588 |
1999 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, combined prothrombotic defects were found in a further 10 patients: the FV mutation was combined with the prothrombin G20210A variant (n = 1), increased Lp(a) (n = 3), protein C deficiency (n = 1), and homozygosity for the C677T MTHFR gene mutation (n = 1).
|
10029588 |
1999 |
|
rs121918146
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Protein C deficiency (a novel mutation: ala291Thr) with systemic lupus erythematosus leads to the deep vein thrombosis.
|
30439769 |
2018 |
|
rs767730328
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutations, three of them novel (Asn210-->Val, Asn248-->Ile, Ala355-->Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis.
|
9788727 |
1998 |
|
rs1183194405
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Molecular mechanism for familial protein C deficiency and thrombosis in protein CVermont (Glu20-->Ala and Val34-->Met).
|
7961868 |
1994 |
|
rs121912713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
|
1569192 |
1992 |
|
rs121909552
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial variant of antithrombin III (AT III Bligny, 47Arg to His) associated with protein C deficiency.
|
2363123 |
1990 |