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
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S et al.
Blood Advances, 2024
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
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 1_Supplementary_table_S1.xlsx › Suppl_tab_1
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Palhais B et al.
Molecular Genetics and Metabolism, 2016
Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.
Dhir A et al.
The Febs Journal, 2010
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL et al.
Human Mutation, 2009
The molecular basis of quantitative fibrinogen disorders.
Asselta R et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
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