TY - JOUR AU - F Quelin, AU - D Francois, AU - R d'Oiron, AU - B Guillet, AU - E de Raucourt, AU - P de Mazancourt, PY - 2005/08/01 Y2 - 2024/03/28 TI - Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K) JF - Haematologica JA - haematol VL - 90 IS - 8 SE - Letters to the Editor DO - 10.3324/%x UR - https://haematologica.org/article/view/3644 SP - 1149-1150 AB - 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. ER -