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 factor binding sites in a region of approximately 40 bp around the major start point of transcription of the FIX gene....
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