ArticleMolecular genetics & genomic medicine2013
The CDC Hemophilia B mutation project mutation list: a new online resource.
Article in Molecular genetics & genomic medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 62 citations in OpenAlex.
- Gene therapy for hemophilia B: results from the phase 1/2 101HEMB01/02 studies.Blood advances · 2025Trial
- Immunopeptidomics of blood coagulation factor IX: a core peptide derived from the protease domain is promiscuously presented on HLA-DR.Research and practice in thrombosis and haemostasis · 2026Article
- Engineering a compact high-fidelity Staphylococcus aureus Cas9 variant with broader targeting range and mechanistic insights into its activation.Nature communications · 2026Article
- Review
- The Construction of a Molecular Model for the Ternary Protein Complex of Intrinsic Coagulation Pathway Factors Provides Novel Insights for the Pathogenesis of Cross-Reactive Material Positive Coagulation Factor Mutations.International journal of molecular sciences · 2025Article
- Review
- The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.Molecular genetics & genomic medicine · 2024Article
- Codon switching of conserved Ser residues in coagulation and fibrinolytic proteases.Journal of thrombosis and haemostasis : JTH · 2024Article
- Article
- Article
- Review
- Mutation analysis and characterisation ofBlood research · 2021Article
- Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.Journal, genetic engineering & biotechnology · 2021Article
- Inhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: a PedNet study.Haematologica · 2021Observational
- The Clinical Genetics of Hemophilia B (Factor IX Deficiency).The application of clinical genetics · 2021Review
- Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.International journal of molecular sciences · 2020Review
- Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.Human mutation · 2020Article
- CRISPR-Cas9-MediatedMolecular therapy. Methods & clinical development · 2020Article
- Evaluation of CDC's Hemophilia Surveillance Program - Universal Data Collection (1998-2011) and Community Counts (2011-2019), United States.Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) · 2020Article
- Molecular characterization of hemophilia B patients in Colombia.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. To help the HB community understand the molecular etiology of HB, we have developed a listing of all F9 mutations that are reported to cause HB based on the literature and existing databases. The Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) mutation list is compiled in an easily accessible format of Microsoft Excel and contains 1083 unique mutations that are reported to cause HB. Each mutation is identified using Human Genome Variation Society (HGVS) nomenclature standards. The mutation types and the predicted changes in amino acids, if applicable, are also provided. Related information including the location of mutation, severity of HB, the presence of inhibitor, and original publication reference are listed as well. Therefore, our mutation list provides an easily accessible resource for genetic counselors and HB researchers to predict inhibitors. The CHBMP mutation list is freely accessible at http://www.cdc.gov/hemophiliamutations.
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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.