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Article

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.

American journal of human genetics - 1 Feb 1992

Solera J, Magallón M, Martin-Villar J, Coloma A

Abstract excerpt

DNA from a patient with severe hemophilia B was evaluated by RFLP analysis, producing results which suggested the existence of a partial deletion within the factor IX gene. The deletion was further localized and characterized by PCR amplification and sequencing. The altered allele has a 4,442-bp deletion which removes both the donor splice site located at the 5' end of intron d and the two last coding nucleotides...

Topics

Adolescent
Amino Acid Sequence
Base Sequence
Blotting, Southern
Chromosome Deletion
DNA
Exons
Factor IX
Humans
Introns
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 1346483
PMCID: PMC1682439

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1346483-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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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.PMID 1346483Read ↗

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

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

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