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

Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: non-homologous recombination associated with a shortened transcript from whole blood.

Thrombosis and haemostasis - 1 Feb 2007

Hsu Ting-Chang, Nakaya Shelley M, Thompson Arthur R

Abstract excerpt

In genotyping a severe hemophilia B subject, exons 1-3 and 5-8 were normal. Exon 4 did not amplify, suggesting a partial gene deletion. Previously, a French family with an exon 4 deletion had severe haemophilia B with a circulating, dysfunctional factor IX protein missing its first growth factor-like domain; breakpoints were not analyzed. Using a 5' primer for exon 3 and a 3' primer for exon 5 fragments, the...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Factor IX
Share to Gene Deletion

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

Share to Hemophilia B

Share to Recombination, Genetic

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA, Messenger

Share to Severity of Illness Index

Source

Identifiers

PMID: 17264943

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

Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: non-homologous recombination associated with a shortened transcript from whole blood.PMID 17264943Read ↗

DNA sequence analysis of three inhibitor-positive hemophilia B patients without gross gene deletion: identification of four novel mutations in factor IX gene.Semantic proximity Read ↗

The rates and patterns of deletions in the human factor IX gene.Semantic proximity Read ↗

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.Semantic proximity Read ↗

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.Semantic proximity Read ↗

Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.Semantic proximity Read ↗

Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.Semantic proximity Read ↗

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.Semantic proximity Read ↗

Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.Semantic proximity Read ↗

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

Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V geneSemantic proximity Read ↗

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.Semantic proximity Read ↗

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoterSemantic proximity Read ↗

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