Twenty-five novel mutations of the factor IX gene in haemophilia B
✍ Scribed by Karin Wulff; Winnie Schröder; Manfred Wehnert; Falko H. Herrmann
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 261 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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In the course of analysing mutation in the factor IX gene from 200 haemophilia B patients in Sweden and the UK, we have identified one patient with a prepeptide missense mutation. He has severe, antigen negative haemophilia, and complete analysis of his coding sequence reveals a single base transver
Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis ldentifled two novel FIX mutations and SIX recurre
In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it