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Factor IX gene mutations in haemophilia B: a New Zealand population-based study

✍ Scribed by NEIL S. VAN DE WATER; RUTH WILLIAMS; ELIZABETH W. BERRY; PAUL A. OCKELFORD; PETER J. BROWETT


Book ID
108769335
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
350 KB
Volume
2
Category
Article
ISSN
1351-8216

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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