ArticleResearch and practice in thrombosis and haemostasis2017
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Article in Research and practice in thrombosis and haemostasis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.Thrombosis and haemostasis · 2023Article
- Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A.Blood advances · 2023Article
- Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.International journal of molecular sciences · 2023Review
- Current Status and Challenges in Delivering Comprehensive Care for Patients with Hemophilia.Journal of blood medicine · 2023Review
- Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.Molecular genetics & genomic medicine · 2021Article
- Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.Molecular genetics & genomic medicine · 2020Article
- Intronic regions of theHeliyon · 2020Article
- Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood · 2019Article
- Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.Research and practice in thrombosis and haemostasis · 2017Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNo genetic defects are found in the coagulation factor VIII gene (
objectivesWe aimed to establish a comprehensive method of analysis of PATIENTS/
methodsForty-five male patients with hemophilia A, including 31 with previously identified causative mutations, were investigated.
resultsOur NGS analysis allowed for the identification of genetic variants in roughly 99% of
conclusionsRare and unique individual variants located deep within the
Indexed as
Identifiers
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Registered trials
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