Article
Origin of Swedish hemophilia B mutations.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2013
Halldén C, Mårtensson A, Nilsson D, Säll T, Lind-Halldén C, Lidén A C, Ljung R
Abstract excerpt
BACKGROUND: More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations. OBJECTIVES: To describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are due to independent recurrent mutations...
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