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Article

Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter.

Blood - 1 Sept 1998

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

Abstract excerpt

We have identified a point mutation in the promoter of the factor VII gene responsible for a severe bleeding disorder in a patient from a large French-Canadian family with known consanguinity. The proband has an extremely low plasma level of factor VII antigen and factor VII coagulant activity (<1 percent of normal) and suffers from hemarthroses and chronic arthropathy. Sequencing of the patient's factor VII 5'...

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PMID: 9716591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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