|
rs77375493
|
|
|
0.020 |
GeneticVariation |
BEFREE |
PNH clones were detected in 2% of patients and were more common in JAK2 V617F positive patients.
|
31601527 |
2019 |
|
rs77375493
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we discuss three somatic mutations arising within the hematopoietic system: BCR-ABL, characteristic of chronic myeloid leukemia; mutations of the PIG-A gene, characteristic of paroxysmal nocturnal hemoglobinuria; the V617F mutation in the JAK2 gene, characteristic of myeloproliferative diseases.
|
20803504 |
2010 |
|
rs2274567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate polymorphism of the CR1 gene in Chinese patients with PNH and its correlation with clinical features and the potential impact on eculizumab efficiency, we genotyped CR1 rs2274567, rs3811381 and the intron 27 Hind III restriction fragment length polymorphism in 95patients with PNH and 96 controls.
|
29551496 |
2018 |
|
rs3811381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The minor allele frequency (MAF) of rs2274567 and rs3811381 in PNH patients and normal controls were lower compared with data from the dbSNP database.
|
29551496 |
2018 |
|
rs2519093
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multivariate regression analysis showed larger PNH clone and genotypes with rs495828/rs2519093 minor allele as independent risk factors for thrombosis in PNH.
|
29190926 |
2017 |
|
rs368927897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thrombophilia testing (including AT, PS & PC, F5 G1691A (FV Leiden)/F2 (prothombin G20210A) genotypes, homocysteine, antiphosphlipid antibody, paroxysmal nocturnal haemoglobinuria by flow cytometry and Janus Kinase-2 (exon 14)) were normal.
|
27812779 |
2017 |
|
rs495828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multivariate regression analysis showed larger PNH clone and genotypes with rs495828/rs2519093 minor allele as independent risk factors for thrombosis in PNH.
|
29190926 |
2017 |
|
rs2228570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, TT carriers of rs2228570 were closely associated with a poor response to treatment and a higher risk of myelodysplastic syndrome/acute leukemia transformation, while CT carriers more easily evolved to overt paroxysmal nocturnal hemoglobinuria.
|
27018192 |
2016 |
|
rs1445335859
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this review we describe differences and similarities in the pathogenesis and clinical manifestations of PNH and primary CD59 Cys89Tyr mutation with the aim of tracking the contribution of CD59 deficiency to the pathophysiology and perhaps deepening our understanding of both diseases.
|
25818314 |
2015 |
|
rs397514767
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this review we describe differences and similarities in the pathogenesis and clinical manifestations of PNH and primary CD59 Cys89Tyr mutation with the aim of tracking the contribution of CD59 deficiency to the pathophysiology and perhaps deepening our understanding of both diseases.
|
25818314 |
2015 |
|
rs782549964
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging.
|
23636902 |
2013 |
|
rs137853315
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype.
|
15994863 |
2006 |
|
rs34422225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of the X-linked gene PIG-A from haemopoietic cells of a female PNH patient showed a homozygous C-55-T substitution that caused replacement of arginine with tryptophan at codon 19.
|
8652378 |
1996 |