Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Disruption of Structural Disulfides of Coagulation FXIII-B Subunit; Functional Implications for a Rare Bleeding Disorder.
Singh S et al.
International Journal of Molecular Sciences, 2019
Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.
Thomas A et al.
Molecular Genetics & Genomic Medicine, 2015
In vitro secretion deficits are common among human coagulation factor XIII subunit B missense mutants: correlations with patient phenotypes and molecular models.
Biswas A et al.
Human Mutation, 2013
Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.
Ivaskevicius V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
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