Associated Papers
Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.
Li Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Physiological correction of hereditary mild hypofibrinogenemia during pregnancy.
Marchi R et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.
Casini A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Succession of splicing regulatory elements determines cryptic 5΄ss functionality.
Brillen AL et al.
Nucleic Acids Research, 2017
FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
Casini A et al.
Thrombosis Research, 2014
Compensatory signals associated with the activation of human GC 5' splice sites.
Kralovicova J et al.
Nucleic Acids Research, 2011
The molecular basis of quantitative fibrinogen disorders.
Asselta R et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon.
Spena S et al.
Rna (new York, N.y.), 2006
Molecular basis of fibrinogen deficiency.
Neerman-Arbez M
Pathophysiology of Haemostasis and Thrombosis, 2006
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.
Spena S et al.
Blood, 2002
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