Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
BEFREE |
A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity.
|
28686706 |
2017 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
BEFREE |
We concluded that, although carriers with PLG:p.Ala620Thr show low plasminogen activity, this is not a predisposing variant for aHUS and that individuals of dysplasminogenemia are not at significantly increased risk of aHUS.
|
27194432 |
2016 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
BEFREE |
Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia.
|
12692411 |
2003 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
BEFREE |
Gene analysis revealed a homozygous missense mutation (Ala601-->Thr) at exon 15 of the plasminogen gene in the patient and a heterozygous mutation in his three daughters, suggesting that the patient has dysplasminogenaemia, which was reported as "plasminogen Tochigi."
|
12091052 |
2002 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
|
10233898 |
1999 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R.
|
9858247 |
1998 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.
|
9242524 |
1997 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
BEFREE |
Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation.
|
8865518 |
1996 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Congenital plasminogen deficiency caused by a Ser572 to Pro mutation.
|
8392398 |
1993 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Plasminogen with type-I mutation is polymorphic in the Japanese population.
|
1427790 |
1992 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis.
|
1986355 |
1991 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Plasminogens Tochigi II and Nagoya: two additional molecular defects with Ala-600----Thr replacement found in plasmin light chain variants.
|
6238949 |
1984 |
Plasminogen Deficiency, Type I
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site.
|
6216475 |
1982 |
Venous Thromboembolism
|
|
0.010 |
GeneticVariation
|
BEFREE |
A race-specific A620T mutation in Plg, also known as Plg-Tochigi, originally identified in a patient with recurrent venous thromboembolism, causes dysplasminogenemia with reduced plasmin activity.
|
28686706 |
2017 |
Atypical Hemolytic Uremic Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We concluded that, although carriers with PLG:p.Ala620Thr show low plasminogen activity, this is not a predisposing variant for aHUS and that individuals of dysplasminogenemia are not at significantly increased risk of aHUS.
|
27194432 |
2016 |
Thrombophilia
|
|
0.010 |
GeneticVariation
|
BEFREE |
After returning to Korea he was tested for thrombophilia which revealed decreased activity of plasminogen and subsequent analysis of PLG gene showed heterozygous Ala620Thr mutation.
|
23772166 |
2013 |
Deep Vein Thrombosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia.
|
12692411 |
2003 |
Antiphospholipid Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Combined Ala601-Thr-type dysplasminogenaemia and antiphospholipid antibody syndrome in a patient with recurrent thrombosis.
|
12091052 |
2002 |
Vascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders.
|
9375744 |
1997 |