Article
Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.
Thrombosis and haemostasis - 1 Nov 1999
Attali O, Vinciguerra C, Trzeciak M C, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C
Abstract excerpt
Seventy unrelated patients suffering from haemophilia B have been screened for determining the molecular defect and for evaluating the spectrum of factor IX mutations in the Rhône Alpes region in France. Most patients were characterized with respect to factor IX antigen and factor IX coagulant activity. We have used denaturing gradient gel electrophoresis to obtain a full scanning of the whole coding, promoter,...
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