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

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 (<...

Topics

Adult
Base Sequence
Binding Sites
Cell Nucleus
Consanguinity
DNA
Factor VII
Factor VII Deficiency
Female
HeLa Cells
Humans
Male
Mutation
Promoter Regions, Genetic
Sp1 Transcription Factor

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.