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Novel missense mutation in the coagulation factor IX catalytic domain associated with severe haemophilia B – Factor IXDelhi

✍ Scribed by A. Mahajan; A. Sharma; S. Chavali; M. Kabra; M. R. Chowdhury; N. Srinivasan; D. Bharadwaj


Book ID
108769505
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
139 KB
Volume
10
Category
Article
ISSN
1351-8216

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Novel missense mutation in the coagulati
✍ Dennis Bartholomew; Thomas Abshire; Melissa Fries; Alice Smith 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB

## Communicated by Garry R. Cutting DNA sequence analysis of the second SSCP variant revealed a TÃA transversion at position 31,167, which results in a predicted phenylalanine to isoleucine missense mutation at codon 349. No other abnormalities in the factor IX gene were identified in either patie