Spectrum of factor IX gene mutations causing haemophilia B from India
暂无分享,去创建一个
[1] S. Chavali,et al. Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians , 2007, Human mutation.
[2] K. Ghosh,et al. A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population , 2007, Annals of Hematology.
[3] M. Chandy,et al. Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India , 2005, Thrombosis and Haemostasis.
[4] S. Chavali,et al. Novel missense mutation in the coagulation factor IX catalytic domain associated with severe haemophilia B – Factor IXDelhi , 2004, Haemophilia : the official journal of the World Federation of Hemophilia.
[5] K. Ray,et al. Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients , 2004, Haemophilia : the official journal of the World Federation of Hemophilia.
[6] F. Rosendaal,et al. Argatroban inhibits staphylothrombin , 2003, Journal of thrombosis and haemostasis : JTH.
[7] A. Tordai,et al. A haemophilia A and B molecular genetic diagnostic programme in Hungary: a highly informative and cost‐effective strategy , 2001, Haemophilia : the official journal of the World Federation of Hemophilia.
[8] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[9] G. Dolan,et al. Precise Carrier Diagnosis in Families with Haemophilia A: Use of Conformation Sensitive Gel Electrophoresis for Mutation Screening and Polymorphism Analysis , 1998, Thrombosis and Haemostasis.
[10] D. Cooper,et al. Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein , 1994, Human Genetics.
[11] D. Bentley,et al. Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden , 1992, Human Genetics.
[12] S. Sommer,et al. Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. , 1991, Genomics.
[13] S. Sommer,et al. Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. , 1990, American journal of human genetics.
[14] G. Castaldo,et al. Molecular genotyping of the Italian cohort of patients with hemophilia B. , 2005, Haematologica.
[15] S. Chavali,et al. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene. , 2004, Haematologica.
[16] J. Leggo,et al. A Founder Factor VII Mutation, Valine 2016 to Alanine, in a Population with an Extraordinarily High Prevalence of Mild Hemophilia A , 2002, Thrombosis and Haemostasis.
[17] R. Ljung,et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. , 1993, Bulletin of the World Health Organization.