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
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
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
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
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Molecular characterization of two hypofibrinogenemic patients associated with a novel FGG IVS6+23T>A substitution and a previously reported FGB IVS6-10_16delTTTG deletion.
Amri Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.
Tiscia GL et al.
International Journal of Molecular Sciences, 2018
Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A.
Mukai S et al.
Thrombosis Research, 2016
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.
Rimoldi V et al.
Plos One, 2013
Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto.
Platè M et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2009
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
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.
Spena S et al.
British Journal of Haematology, 2007
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