|
rs142572218
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In contrast, adult-onset USS, consisting exclusively in pregnancy-induced TTP, included a smaller and distinct panel of <i>ADAMTS13</i> sequence variations (<i>n</i> = 20) because of one mutation (p.Arg1060Trp) present in 82% of patients.
|
30312976 |
2018 |
|
rs142572218
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.
|
22529288 |
2012 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura.
|
22075512 |
2011 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.
|
19055667 |
2009 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.
|
19116307 |
2009 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
|
18443791 |
2008 |
|
rs142572218
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The high prevalence of R1060W ADAMTS-13 in adult onset TTP, together with its absence in childhood congenital TTP cases reported elsewhere, suggests it may be a factor in the development of late onset TTP.
|
18031293 |
2008 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.
|
16453338 |
2006 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.
|
16160007 |
2006 |
|
rs142572218
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
A common origin of the 4143insA ADAMTS13 mutation.
|
16807643 |
2006 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A common origin of the 4143insA ADAMTS13 mutation.
|
16807643 |
2006 |
|
rs142572218
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.
|
16796708 |
2006 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.
|
17003922 |
2006 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.
|
16796708 |
2006 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
|
16449289 |
2006 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.
|
14563640 |
2004 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
|
15009458 |
2004 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.
|
14512317 |
2004 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).
|
15327386 |
2004 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.
|
15126318 |
2004 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.
|
12614216 |
2003 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
|
12393505 |
2003 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
|
12753286 |
2003 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.
|
12181489 |
2002 |
|
rs142572218
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
|
11586351 |
2001 |