|
rs137852249
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Conclusions Altogether, our data detail molecular mechanisms underlying type I HB and candidate NaPBA as affordable 'personalized' therapeutics for patients affected by the highly frequent p.R294Q mutation, and with reduced access to substitutive therapy.
|
29993188 |
2018 |
|
rs137852237
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Nineteen point mutations were identified, including a novel missense variant (c.520G > C, p.Val174Leu) in a patient with severe HB and a previously unreported homozygous missense mutation (c.571C > T, p.Arg191Cys) in a female patient with mild HB.
|
27109384 |
2016 |
|
rs137852227
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our comprehensive HB population included five patients with long-lasting FIX inhibitors: three nonsense (p.E35* (novel), p.R75*, p.W240*) and two entire- F9 deletions.
|
23093250 |
2013 |
|
rs137852248
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Western blotting of plasma from FIX deficient (Hemophilia B) patients revealed traces of full-length FIX for the p.R294* and p.R298* mutations, but not for the p.L103* mutation that triggered major FIX mRNA decay.
|
22618954 |
2012 |
|
rs387906482
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one.
|
10942410 |
2000 |
|
rs144314232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, a synonymous mutation c.459G>A (Val107Val) was clinically reported to result in mild haemophilia B (FIX coagulant activity 15%-20% of normal).
|
28007939 |
2017 |
|
rs371045754
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using known biomedical SNP markers, we identified 17 novel candidate SNP markers nearby: rs549858786 (rheumatoid arthritis); rs72661131 (cardiovascular events in rheumatoid arthritis); rs562962093 (stroke); rs563558831 (cyclophosphamide bioactivation); rs55878706 (malaria resistance, leukopenia), rs572527200 (asthma, systemic sclerosis, and psoriasis), rs371045754 (hemophilia B), rs587745372 (cardiovascular events); rs372329931, rs200209906, rs367732974, and rs549591993 (all four: cancer); rs17231520 and rs569033466 (both: atherosclerosis); rs63750953, rs281864525, and rs34166473 (all three: malaria resistance, thalassemia).
|
26516624 |
2015 |
|
rs147567879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mild haemophilia B from a novel missense mutation Ser350Ala of the F9 gene.
|
23492913 |
2013 |
|
rs753654616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sister of the index case was heterozygous only for F9 c.845A>G, indicating carriership of haemophilia B alone.
|
20860608 |
2011 |