"Founder" effect in different families with haemophilia B mutation
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Cited by (39)
The past and future of haemophilia: diagnosis, treatments, and its complications
2016, The LancetCitation Excerpt :No causative gene variation was identified in a small proportion (<3%) of patients with haemophilia B.27–29 Unlike in haemophilia A, in haemophilia B no common frequent genetic variation, such as intron 22 inversion, has been identified. However, 20–30% of cases of mild haemophilia B are caused by roughly ten founder gene variants.30,31 Next-generation sequencing provides enhanced opportunities to characterise molecular defects in patients with haemophilia, particularly in those whose molecular defect has not been determined yet.32
Joint range-of-motion limitations among young males with hemophilia: Prevalence and risk factors
2004, BloodCitation Excerpt :As a result, better sustained circulating levels of FIX than FVIII after an infusion would tend to reduce the number of recurrent bleeding episodes. In addition, a substantial proportion of patients has been shown to have mutations of the hemophilia B gene (founders effects) that are associated with a mild phenotype despite a measured factor activity level in the moderate range.7 An examination of data collected on all UDC participants regardless of age or severity revealed that, overall, persons with hemophilia B consistently reported fewer bleeds and had less ROM limitation than those with hemophilia A. Further study of this issue is needed.
The Hemophilias
1995, Advances in Genetics[8] Characterization of Factor IX Defects in Hemophilia B Patients
1993, Methods in EnzymologyBiology of inherited coagulopathies: Factor IX
1992, Hematology/Oncology Clinics of North AmericaNeonatal Hemophilia A
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