The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
نویسندگان
چکیده
Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective manner. This guideline aims to provide advice on current best laboratory practice when approaching genetic diagnosis of haemophilia B.
منابع مشابه
The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization.
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J . HANLEY,* A. MCKERNAN,† M. D. CREAGH,‡ S. CLASSEY,§ P. MCLAUGHLIN,¶ N. GODDARD,¶ P. J . BRIGGS,* S. FROSTICK,** P. GIANGRANDE,†† J . WILDE,‡‡ J . THACHIL§§ and P. CHOWDARY¶ ON BEHALF OF THE MUSCULOSKELETAL WORKING PARTY OF THE UKHCDO *Haemophilia Centre, Royal Victoria Infirmary, Newcastle upon Tyne; †Department of Haematology, Derby Hospitals NHS Foundation Trust, Derby; ‡Haemophilia Centre...
متن کاملThe molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.
von Willebrand disease (VWD) is a common autosomally inherited bleeding disorder associated with mucosal or trauma-related bleeding in affected individuals. VWD results from a quantitative or qualitative deficiency of von Willebrand factor (VWF), a glycoprotein that is essential for primary haemostasis and that carries and protects coagulation factor VIII (FVIII) in the circulation. Through cha...
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عنوان ژورنال:
- Haemophilia : the official journal of the World Federation of Hemophilia
دوره 11 4 شماره
صفحات -
تاریخ انتشار 2005