caa a22 4500 467984719 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193593 doi (NATIONALLICENCE)springer-10.1007/BF00193593 Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA [Elektronische Daten] [Lutz-Peter Berg, Kerstin Wieland, David Millar, Manfred Schlösser, Michael Wagner, Vijay Kakkar, Jochen Reiss, David Cooper] Summary: Specifically-primed reverse transcripts of lymphocyte-derived factor VIII (FVIII) mRNA were successfully amplified by means of the polymerase chain reaction (PCR) thus further extending the phenomenon of ectopic ("illegitimate”) transcription of tissue-specific genes. The diagnostic potential of a basal rate of transcription in non-expressing tissues was then demonstrated by the detection of a novel point mutation in the FVIII gene causing haemophilia A by PCR/direct sequencing of ectopically transcribed mRNA derived from patient lymphocytes. Springer-Verlag, 1990 Berg Lutz-Peter Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Wieland Kerstin Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Millar David Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Schlösser Manfred Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400, Göttingen, Germany aut Wagner Michael Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400, Göttingen, Germany aut Kakkar Vijay Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Reiss Jochen Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400, Göttingen, Germany aut Cooper David Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut Human Genetics Springer-Verlag 85/6(1990-10-01), 655-658 0340-6717 85:6<655 1990 85 439 https://doi.org/10.1007/BF00193593 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193593 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Berg Lutz-Peter Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Wieland Kerstin Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Millar David Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Schlösser Manfred Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Wagner Michael Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Kakkar Vijay Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 700 1- Reiss Jochen Institut für Humangenetik der Universität, Gosslerstrasse 12d, W-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Cooper David Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR, Chelsea, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 655-658 0340-6717 85:6<655 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer