Article
Origin of Swedish hemophilia A mutations.
Journal of thrombosis and haemostasis : JTH - 1 Dec 2012
Halldén C, Nilsson D, Säll T, Lind-Halldén C, Lidén A C, Ljung R
Abstract excerpt
BACKGROUND: Hemophilia A (HA) has a high level of variation within the disease class, with more than 1000 mutations being listed in the HAMSTeRS database. At the same time a number of F8 mutations are present in specific populations at high frequencies. OBJECTIVES: The simultaneous presence of large numbers of rare mutations and a small number of high-frequency mutations raises questions about the origins of HA...
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