ArticleNucleic acids research1998
Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
Article in Nucleic acids research, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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.
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Who cites it
30 citing papers in PubMed.
- Furin extracellularly cleaves secreted PTENα/β to generate C-terminal fragment with a tumor-suppressive role.Cell death & disease · 2022Article
- Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article.Medicine · 2019Observational
- [Construction of the pIRES2-ZsGreen1 eukaryotic expression vector of Factor Ⅸ gene and expression in HEK-293 cells].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2016Article
- An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.Molecular therapy. Nucleic acids · 2016Article
- Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.PLoS genetics · 2016Article
- Gene therapy for hemophilia: the clot thickens.Human gene therapy · 2014Article
- Article
- Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations.The Kaohsiung journal of medical sciences · 2014Article
- Mutation analysis of a cohort of US patients with hemophilia B.American journal of hematology · 2014Article
- The CDC Hemophilia B mutation project mutation list: a new online resource.Molecular genetics & genomic medicine · 2013Article
- Preclinical safety and efficacy of a new recombinant FIX drug product for treatment of hemophilia B.International journal of hematology · 2013Article
- Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.FEBS letters · 2013Article
- A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.American journal of human genetics · 2013Article
- Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.Thrombosis and haemostasis · 2013Article
- Article
- In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Journal of biomedical science · 2012Article
- Impact of the underlying mutation and the route of vector administration on immune responses to factor IX in gene therapy for hemophilia B.Molecular therapy : the journal of the American Society of Gene Therapy · 2009Article
- Article
- The enhancing effects of the light chain on heavy chain secretion in split delivery of factor VIII gene.Molecular therapy : the journal of the American Society of Gene Therapy · 2007Article
- Transgene expression levels and kinetics determine risk of humoral immune response modeled in factor IX knockout and missense mutant mice.Gene therapy · 2007Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.
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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.