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 di...
Topics
- Austria
- Base Sequence
- Factor IX
- Genetic Code
- Hemophilia B
- Humans
- Molecular Sequence Data
- Mutation