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

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

American journal of human genetics - 1 Dec 1990

Chen S H, Scott C R

Abstract excerpt

Factor IXSeattle 1 is a 10-kb intragenic deletion identified in a family that has hemophilia B. By sequencing across the site of the deletion, we discovered at the deletion junction a 13-bp sequence (5' . . . TAGAA-GTTCACTT . . . 3') that was homologous to two 14-bp sequences 10 kb apart in introns D and F of the normal factor IX gene. The presence of these homologous sequences in two different regions of the...

Topics

Base Sequence
Chromosome Deletion
Factor IX
Genes
Hemophilia B
Humans
Introns
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Recombination, Genetic
Sequence Homology, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 2239965
PMCID: PMC1683893

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2239965-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.PMID 2239965Read ↗

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

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.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 ↗

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 ↗

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.Semantic proximity Read ↗

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.Semantic proximity Read ↗

Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.Semantic proximity Read ↗

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

Homeologous recombination between AluSx-sequences as a cause of hemophiliaSemantic proximity Read ↗

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndromeSemantic proximity Read ↗

Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B.Semantic proximity Read ↗

The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversionSemantic proximity Read ↗

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