ArticleNucleic acids research1991
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.
Article in Nucleic acids research, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 citations in OpenAlex.
- Hemophilia and von Willebrand's disease: 2. Management. Association of Hemophilia Clinic Directors of Canada.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 1995Guideline
- Article
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- Structure of blood coagulation factor VIII in complex with an anti-C1 domain pathogenic antibody inhibitor.Blood · 2021Article
- Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Molecular genetics & genomic medicine · 2018Review
- Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.Molecular medicine reports · 2018Article
- Paradigms of sulfotransferase catalysis: the mechanism of SULT2A1.The Journal of biological chemistry · 2014Article
- HindIII-based restriction fragment length polymorphism in hemophilic and nonhemophilic patients.Journal of natural science, biology, and medicine · 2010Article
- Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization.Indian journal of human genetics · 2008Article
- Genetic analysis of haemophilia A in Bulgaria.BMC blood disorders · 2004Article
- Blood coagulation factor VIII: An overview.Journal of biosciences · 2003Review
- The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.Nucleic acids research · 1998Article
- Haemophilia.Postgraduate medical journal · 1997Review
- The human clotting factor VIII cDNA contains an autonomously replicating sequence consensus- and matrix attachment region-like sequence that binds a nuclear factor, represses heterologous gene expression, and mediates the transcriptional effects of sodium butyrate.Molecular and cellular biology · 1996Article
- Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.American journal of human genetics · 1996Article
- Structure-function relationship of bacterial prolipoprotein diacylglyceryl transferase: functionally significant conserved regions.Journal of bacteriology · 1995Article
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Nucleic acids research · 1994Article
- Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A.Human genetics · 1994Article
- Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication.Human genetics · 1994Article
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Nucleic acids research · 1994Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 10 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations at the factor VIII gene locus causing Haemophilia A have now been identified in many patients from many ethnic groups. Earlier studies used biased methods which detected repetitive mutations at a few CG dinucleotides. More recently rapid gene scanning methods have uncovered an extreme diversity of mutations. Over 80 different point mutations, 6 insertions, 7 small deletions, and 60 large deletions have been characterised. Repetitive mutation has been proved for at least 16 CpG sites. All nonsense mutations cause severe disease. Most missense mutations appear to cause instability of the protein, but some are associated with production of dysfunctional factor VIII molecules, thereby localising functionally critical regions of the cofactor. Variable phenotype has been observed in association with three of the latter class of genotype. This catalogue of gene lesions in Haemophilia A will be updated annually.
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