×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
CausalMutation
disease
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
27067486
2016
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
21668437
2012
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.
21718436
2011
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Characterization of the genetic basis of FXI deficiency in two Turkish patients.
20015217
2010
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Factor XI deficiency in Southern Iran: identification of a novel missense mutation.
18758779
2009
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Characterisation of five factor XI mutations.
17549289
2007
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect.
17229051
2007
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
CausalMutation
disease
CLINVAR
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
16835901
2006
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
16079124
2005
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency.
15749683
2005
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
Compound heterozygosity for two novel mutations in a severe factor XI deficiency.
12879434
2003
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
0.100
GeneticVariation
disease
CLINVAR
A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain.
11122101
2000
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
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