Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Characterization of the human factor VIII gene

Jane Gitschier, William I. Wood, Therese M. Goralka et al. · Nature · 1984 · 995 citations

Medicine, Hematology, Molecular Biology +9

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Delia Lakich, Haig H. Kazazian, Stylianos E. Antonarakis et al. · Nature Genetics · 1993 · 796 citations · Full text

Medicine, Genetics, Molecular Genetics +11

The Nijmegen Modification of the Bethesda Assay for Factor VIII:C Inhibitors: Improved Specificity and Reliability

Bert Verbruggen, I.R.O. Nováková, H. Wessels et al. · Thrombosis and Haemostasis · 1995 · 655 citations

Medicine, Hematology, Clinical Biochemistry +13

Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs

S. Ehrenforth, W. Kreuz, R. Linde et al. · The Lancet · 1992 · 608 citations

Medicine, Hematology, Hemostasis +11