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Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

Berg, Lutz-Peter, Wieland, Kerstin, Millar, DavidS., Schlösser, Manfred, Wagner, Michael, Kakkar, VijayV., Reiss, Jochen and Cooper, David Neil 1990. Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Human Genetics 85 (6) , pp. 655-658. 10.1007/BF00193593

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Springer
ISSN: 0340-6717
Last Modified: 04 Jun 2017 06:33
URI: http://orca.cf.ac.uk/id/eprint/62050

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