The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.
نویسندگان
چکیده
The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.
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عنوان ژورنال:
- Haematologica
دوره 90 5 شماره
صفحات -
تاریخ انتشار 2005