Variant: rs142952627 

    present in Gene: F11;F11-AS1
    present in Chromosome: 4
    Position on Chromosome: 186287734
    Alleles of this Variant: G/A;T

rs142952627 in F11;F11-AS1 gene and Hereditary Factor XI Deficiency PMID 22016685 2011 A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

PMID 7888672 1995 Six point mutations that cause factor XI deficiency.

PMID 9401068 1997 Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.

PMID 21999818 2012 A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.

PMID 15026311 2004 Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

PMID 10606881 1999 Heterozygous factor XI deficiency associated with three novel mutations.

PMID 25158988 2015 Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.

PMID 22159456 2012 Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

PMID 21668437 2012 Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

PMID 15953011 2005 Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.

PMID 10027710 1999 Identification of a novel mutation in a non-Jewish factor XI deficient kindred.

PMID 15180874 2004 Severe factor XI deficiency caused by compound heterozygosity.

PMID 21457405 2011 Three dominant-negative mutations in factor XI-deficient patients.

PMID 16607084 2006 Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

PMID 1547342 1992 Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency.

PMID 11895778 2002 Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.

PMID 18005151 2008 Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.

PMID 9787168 1998 Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.

PMID 2813350 1989 Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

PMID 7669672 1995 Identification of two novel mutations in non-Jewish factor XI deficiency.