Associated Papers
A focus on dominant negative variants in a series of 170 heterozygous FXI-deficient patients.
de Mazancourt P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
Colakoglu S et al.
Blood Transfusion = Trasfusione Del Sangue, 2018
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).
Guéguen P et al.
Thrombosis and Haemostasis, 2012
Characterization of the genetic basis of FXI deficiency in two Turkish patients.
Berber E et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.
Fard-Esfahani P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation.
Ceroni M et al.
Neurology, 1999
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