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 ORCID: https://orcid.org/0000-0002-8943-8484 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:	27 Oct 2022 08:21
URI:	https://orca.cardiff.ac.uk/id/eprint/62050

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