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  • Title: Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
    Author: Quélin F, François D, d'Oiron R, Guillet B, de Raucourt E, de Mazancourt P.
    Journal: Haematologica; 2005 Aug; 90(8):1149-50. PubMed ID: 16079124.
    Abstract:
    Factor XI (FXI) deficiency is a rare coagulation disorder associated with bleeding of variable severity but without a clear relationship between bleeding and FXI levels. This study reports the molecular genetic analysis of FXI deficiencies in thirteen patients. Six novel missense mutations were identified: P23L, P69T, C92G, E243D, W497C and E547K.
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