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Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family

✍ Scribed by W. Onland; A. N. Böing; A. B. Meijer; M. C. L. Schaap; R. Nieuwland; K. Haasnoot; A. Sturk; M. Peters


Book ID
108772489
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
301 KB
Volume
11
Category
Article
ISSN
1351-8216

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✍ P. M. Green; V. E. Mitchell; A. McGraw; E. Goldman; F. Giannelli 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 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