Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Splice junction mutations in factor IX gene resulting in severe hemophilia B.

Nucleic acids research - 11 Mar 1991

Chen S H, Zhang M, Thompson A R, Bray G L, Scott C R

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Factor IX
Share to Hemophilia B
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 2020563
DOI: 10.1093/nar/19.5.1172
PMCID: PMC333833

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splice junction mutations in factor IX gene resulting in severe hemophilia B.PMID 2020563Read ↗

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.Semantic proximity Read ↗

SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia BSemantic proximity Read ↗

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.Semantic proximity Read ↗

Haemophilia B and factor IX mutations.Semantic proximity Read ↗

Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX.Semantic proximity Read ↗

Splice site mutation in factor X gene manifesting as severe intracranial haemorrhage in neonatal period with a challenging treatment course.Semantic proximity Read ↗

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.Semantic proximity Read ↗

Five novel factor IX mutations in unrelated hemophilia B families.Semantic proximity Read ↗

Five novel factor IX mutations in unrelated hemophilia B patients.Semantic proximity Read ↗

Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesisSemantic proximity Read ↗

Haemophilia B: database of point mutations and short additions and deletions, 7th edition.Semantic proximity Read ↗

A new hemophilia B mutation in the propeptide region of the FIX gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.