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
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.
Brunclikova M et al.
Journal of Clinical Medicine, 2022
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
Paraboschi EM et al.
International Journal of Molecular Sciences, 2017
FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
Casini A et al.
Thrombosis Research, 2014
Fibrinogen Paris IX: a case of symptomatic hypofibrinogenemia with Bbeta Y236C and Bbeta IVS7-1G-->C mutations.
Horellou MH et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Select a paper to view details