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Article

An A to T transversion at position -5 of the factor IX promoter results in hemophilia B.

Genomics - 1 Jan 1992

Picketts D J, D'Souza C, Bridge P J, Lillicrap D

Abstract excerpt

The molecular pathology that results in hemophilia B has been determined by many studies to be highly variable. Several point mutations have been identified in a 40-bp region within the Factor IX promoter. These include mutations at nucleotides -20, -6, +8, and +13. Here we report an A to T transversion at position -5 of the Factor IX gene. There is strong circumstantial evidence to support an important role for...

Topics

DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Factor IX
Female
Hemophilia B
Humans
Male
Mutation
Polymerase Chain Reaction
Promoter Regions, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1733855
DOI: 10.1016/0888-7543(92)90421-n

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1733855-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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An A to T transversion at position -5 of the factor IX promoter results in hemophilia B.PMID 1733855Read ↗

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