ArticleNucleic acids research1994
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Article in Nucleic acids research, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.International journal of molecular sciences · 2026Article
- Loss of factor VIII in zebrafish rebalances antithrombin deficiency but has a limited bleeding diathesis.Blood advances · 2025Article
- Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.International journal of molecular sciences · 2025Article
- De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.International journal of molecular sciences · 2024Article
- Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.Molecular genetics & genomic medicine · 2020Review
- Mechanistic Insights into Factor VIII Immune Tolerance Induction via Prenatal Cell Therapy in Hemophilia A.Current stem cell reports · 2019Article
- Impact of Prothrombotic Risk Factors in a Cohort of Egyptian Hemophilia A Patients.Molecular diagnosis & therapy · 2016Article
- Challenges and successes in the treatment of hemophilia: the story of a patient with severe hemophilia A and high-titer inhibitors.Journal of blood medicine · 2012Article
- Passive transfer of polyethylene glycol to liposomal-recombinant human FVIII enhances its efficacy in a murine model for hemophilia A.Journal of pharmaceutical sciences · 2008Article
- Article
- Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.Human genetics · 2006Article
- Immune tolerance therapy for haemophilia.Drugs · 2000Review
- The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.Nucleic acids research · 1998Article
- The EMBL Nucleotide Sequence Database.Nucleic acids research · 1997Article
- The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).Nucleic acids research · 1997Article
- Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene.Molecular and cellular biology · 1996Article
- The European Bioinformatics Institute (EBI) databases.Nucleic acids research · 1996Article
Corrections and comments
- Republished from
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.