Ectopic (Illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Berg, Lutz-Peter, Kakkar, Vijay V. and Reiss, Jochen 1994. Ectopic (Illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease. Annals of Medicine 26 (1) , pp. 9-14. 10.3109/07853899409147321

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Abstract

By means of the Polymerase Chain Reaction (PCR), ectopic or illegitimate transcripts from any gene may be amplified from any tissue or cell type. RNA transcript analysis is therefore no longer dependent upon possession of the often inaccessible expressing tissue. We review here the applications of ectopic transcript analysis to mutation detection and characterization, analysis of RNA splicing and the study of the genotype-phenotype relationship.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Ectopic/illegitimate transcripts, human genetic disease.
Publisher:	Informa Healthcare
ISSN:	0785-3890
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62008

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