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Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain

✍ Scribed by S. J. KLING; M. GRIFFEE; M. M. FLANDERS; G. M. RODGERS


Book ID
109149381
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
90 KB
Volume
4
Category
Article
ISSN
1538-7933

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Haemophilia B caused by a missense mutat
✍ P. M. Green; V. E. Mitchell; A. McGraw; E. Goldman; F. Giannelli πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 457 KB

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