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Article

A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency.

Blood - 15 Dec 2000

Carew J A, Pollak E S, Lopaciuk S, Bauer K A

Abstract excerpt

Investigation of the molecular basis of a severe factor VII (fVII) deficiency revealed compound heterozygosity in the fVII gene. On the paternal allele the patient had 3 structural gene abnormalities frequently associated with fVII deficiency. A new mutation, a C to T transition at position -55 relative to the translational start site, was found on the maternal allele. The study demonstrates that this mutation...

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PMID: 11110717

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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