rs137852237
|
|
Hemophilia B
|
|
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 |
rs137852237
|
|
Hemophilia B
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852237
|
|
Hemophilia B
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |
rs137852237
|
|
Hemophilia B
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852249
|
|
Hemophilia B
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Results As a model we chose the most frequent HB mutation (p.R294Q, ~100 patients), compared with other recurrent mutations associated with severe/moderate type I HB.
|
29993188 |
2018 |
rs137852249
|
|
Hemophilia B
|
|
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 |
rs137852249
|
|
Hemophilia B
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852249
|
|
Hemophilia B
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
|
22544209 |
2012 |
rs137852249
|
|
Hemophilia B
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |
rs137852249
|
|
Hemophilia B
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.
|
19699296 |
2009 |
rs137852249
|
|
Hemophilia B
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.
|
2472424 |
1989 |
rs137852226
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852226
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |
rs137852226
|
|
Hemophilia B
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852228
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852228
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |
rs137852228
|
|
Hemophilia B
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852229
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852229
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |
rs137852229
|
|
Hemophilia B
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852230
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852230
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |
rs137852230
|
|
Hemophilia B
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852231
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization.
|
23157203 |
2013 |
rs137852231
|
|
Hemophilia B
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: haemophilia B.
|
22274582 |
2012 |