A single base pair deletion in the promoter region of the factor IX gene is associated with haemophilia B.

Article

A single base pair deletion in the promoter region of the factor IX gene is associated with haemophilia B.

Thrombosis and haemostasis - 1 Dec 1994

Hall A J, Chuansumrit A, Peake I R, Winship P R

Abstract excerpt

Patients with the haemophilia B Leyden phenotype show a distinct pattern of factor IX expression characterized by a post-pubertal increase in FIX levels and the remission of clinical symptoms in adult life. This phenotype has previously been linked to single base mutations within transcription fa...

Topics

Base Composition
Base Sequence
Binding Sites
Child
Child, Preschool
Factor IX
Gene Deletion
Hemophilia B
Humans
Molecular Sequence Data
Phenotype
Promoter Regions, Genetic
Transcription, Genetic

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