caa a22 4500 467986584 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197709 doi (NATIONALLICENCE)springer-10.1007/BF00197709 The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene [Elektronische Daten] [D. Millar, R. Steinbrecher, K. Wieland, C. Grundy, U. Martinowitz, M. Krawczak, B. Zoll, D. Whitmore, J. Stephenson, R. Mibashan, V. Kakkar, D. Cooper] Summary: In a survey of 528 unrelated haemophilia A patients, six partial deletions of the factor VIII (FVIII) gene were detected by Southern blotting. These deletions were further mapped by a combination of Southern blotting and polymerase chain reaction amplification and found to vary in length between 4.7kb and 57kb. The frequency of detectable FVIII gene deletions (about 1%) is thus considerably lower than previously reported. Statistical analysis of currently available data did not provide any evidence for a deletion "hotspot”. Four of the six deletion patients reported here possessed inhibitors. Taken together with previous data, deletion of the FVIII gene was found to be associated with an approximately fivefold higher risk of developing inhibitors compared with other severe haemophiliacs without gene deletions. Springer-Verlag, 1990 Millar D. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Steinbrecher R. Haematology Department, King's College Hospital, London, UK aut Wieland K. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Grundy C. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Martinowitz U. Haemophilia Center, Tel-Hashomer, Israel aut Krawczak M. Institut für Humangenetik der Universität, W-3400, Göttingen, Germany aut Zoll B. Institut für Humangenetik der Universität, W-3400, Göttingen, Germany aut Whitmore D. Haematology Department, Lewisham Hospital, London, UK aut Stephenson J. Haematology Department, King's College Hospital, London, UK aut Mibashan R. Haematology Department, King's College Hospital, London, UK aut Kakkar V. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Cooper D. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Human Genetics Springer-Verlag 86/2(1990-12-01), 219-227 0340-6717 86:2<219 1990 86 439 https://doi.org/10.1007/BF00197709 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197709 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Millar D. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Steinbrecher R. Haematology Department, King's College Hospital, London, UK aut NATIONALLICENCE 700 1- Wieland K. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Grundy C. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Martinowitz U. Haemophilia Center, Tel-Hashomer, Israel aut NATIONALLICENCE 700 1- Krawczak M. Institut für Humangenetik der Universität, W-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Zoll B. Institut für Humangenetik der Universität, W-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Whitmore D. Haematology Department, Lewisham Hospital, London, UK aut NATIONALLICENCE 700 1- Stephenson J. Haematology Department, King's College Hospital, London, UK aut NATIONALLICENCE 700 1- Mibashan R. Haematology Department, King's College Hospital, London, UK aut NATIONALLICENCE 700 1- Kakkar V. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Cooper D. Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 219-227 0340-6717 86:2<219 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer