Haematologica
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Haematologica, Vol 90, Issue 8, 1149-1150
Copyright © 2005 by Ferrata Storti Foundation

Letter

Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K)

F Quelin, D Francois, R d'Oiron, B Guillet, E de Raucourt, and P de Mazancourt

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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Copyright © 2005 by the Ferrata Storti Foundation.