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Article

Two mutations of the factor IX gene including a donor splice consensus deletion and a point mutation in a Dutch patient with severe hemophilia B.

Thrombosis and haemostasis - 30 Nov 1990

Poort S R, Briët E, Bertina R M, Reitsma P H

Abstract excerpt

The abnormal factor IX gene of a patient with severe hemophilia B (hemophilia B Ursem) was selected for study. All of the coding and their flanking regions and parts of the 5'- and 3'-untranslated regions of the factor IX gene were amplified from the patient's genomic DNA by using the polymerase chain reaction (PCR). By analyzing the nucleotide sequence of the PCR products we have identified two mutations in the...

Topics

Amino Acid Sequence
Base Sequence
Chromosome Deletion
DNA, Recombinant
Factor IX
Female
Hemophilia B
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Netherlands

Polymerase Chain Reaction

Sequence Homology, Nucleic Acid

Severity of Illness Index

Source

Identifiers

PMID: 2096489

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2096489-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Two mutations of the factor IX gene including a donor splice consensus deletion and a point mutation in a Dutch patient with severe hemophilia B.PMID 2096489Read ↗

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Point mutations in four hemophilia B patients from China.Semantic proximity Read ↗

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

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Six novel and three recurrent mutations in nine Austrian patients with hemophilia B.Semantic proximity Read ↗

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.Semantic proximity Read ↗

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