|
Hereditary Factor XI Deficiency
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
|
27067486 |
2016 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.
|
24982842 |
2014 |
|
Hereditary Factor XI Deficiency
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.
|
23332144 |
2013 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
|
21668437 |
2012 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.
|
21718436 |
2011 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of the genetic basis of FXI deficiency in two Turkish patients.
|
20015217 |
2010 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.
|
19652879 |
2009 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families.
|
20523169 |
2009 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Factor XI deficiency in Southern Iran: identification of a novel missense mutation.
|
18758779 |
2009 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.
|
18832909 |
2008 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Characterisation of five factor XI mutations.
|
17549289 |
2007 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect.
|
17229051 |
2007 |
|
Hereditary Factor XI Deficiency
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
|
16835901 |
2006 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
|
16079124 |
2005 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.
|
15953011 |
2005 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency.
|
15749683 |
2005 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.
|
14717969 |
2004 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygosity for two novel mutations in a severe factor XI deficiency.
|
12879434 |
2003 |
|
Hereditary Factor XI Deficiency
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain.
|
11122101 |
2000 |
|
Hereditary Factor XI Deficiency
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
|
2813350 |
1989 |