rs1170838100
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1175050951
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1182648920
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.
|
2775660 |
1989 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
|
8076946 |
1994 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.
|
11122099 |
2000 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
|
25470321 |
2015 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic defect responsible for the dysfunctional protein: factor IXLong Beach.
|
3401602 |
1988 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa.
|
8295821 |
1993 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
|
2162822 |
1990 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.
|
9600455 |
1998 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
|
2714791 |
1989 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
|
6603618 |
1983 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.
|
2372509 |
1990 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.
|
1346975 |
1992 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.
|
2773937 |
1989 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.
|
2592373 |
1989 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Five novel factor IX mutations in unrelated hemophilia B patients.
|
9452115 |
1998 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Twenty-five novel mutations of the factor IX gene in haemophilia B.
|
8680410 |
1995 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa.
|
9169594 |
1997 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
|
25251685 |
2014 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
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 |
rs1216516070
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.
|
1958666 |
1991 |
rs1222227572
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
|
2714791 |
1989 |
rs1222227572
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Twenty-five novel mutations of the factor IX gene in haemophilia B.
|
8680410 |
1995 |