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BackgroundThe mutations in UNC13D are responsible for familial hemophagocytic lymphohistiocytosis (FHL) type 3. A 253‐kb inversion and two deep intronic mutations, c.118–308C > T and c.118–307G > A, in UNC13D were recently reported in European and Asian FHL3 patients. We sought to determine the prevalence of these three non‐coding mutations in North American FHL patients and evaluate the significance...
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