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Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).

Thrombosis and haemostasis - 6 May 1991

Hamaguchi M, Matsushita T, Tanimoto M, Takahashi I, Yamamoto K, Sugiura I, Takamatsu J, Ogata K, Kamiya T, Saito H

Abstract excerpt

Enzymatic DNA amplification and complete sequence analysis were used to investigate human factor IX coding sequences in three CRM+ hemophilia B patients. In a patient with severe hemophilia B and a markedly prolonged ox-brain prothrombin time, a C to T transition in exon VI changed the codon for Arg180 to Trp (factor IX BMNagoya 2). This mutation would impair the cleavage by factor XIa required for activation of...

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PMID: 1871712

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