A complete deletion of the factor IX gene and newTaqI variant in a hemophilia B kindred
β Scribed by S. A. M. Taylor; D. P. Lillicrap; V. Blanchette; A. R. Giles; J. J. A. Holden; B. N. White
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 630 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0340-6717
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Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene. The entire coding and essential sequences of the factor VIII gene were generated by a combination of genomic DNA amplification and long reverse transcription-polymerase chain reaction (long R
Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX genes of patients from 50 distinct families with
Factor IX (FIX) recovery and half-life was measured in ten hemophilia B patients under standardized conditions. Each patient received a steam-treated high-purity factor IX concentrate at a dose of 19-39 U/kg body weight. FIX activity was determined using a one-stage assay, which was calibrated again