Article
Six novel and three recurrent mutations in nine Austrian patients with hemophilia B.
Thrombosis and haemostasis - 1 Jul 1994
Walter J, Pabinger-Fasching I, Watzke H H
Abstract excerpt
In this report we describe the molecular basis of the factor IX (FIX) deficiency in nine patients with severe (n = 6), moderate (n = 1) or mild (n = 2) hemophilia B. The following genetic defects were identified by enzymatic amplification with the polymerase chain reaction (PCR) and subsequent direct sequencing of all exons and exon-intron-junctions: patient B.B. (FIX "Vienna I"): deletion of nucleotides 6343 to...
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