Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview

Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Schmidtke, Jörg 1992. Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview. Annals of Medicine 24 (1) , pp. 29-42. 10.3109/07853899209164142

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Abstract

The advent of recombinant DNA technology has contributed enormously to our understanding of human genome pathology. In this review, current approaches to the analysis and diagnosis of human genetic disease are presented and their contribution to diagnostic medicine assessed. At the level of the gene, the nonrandom nature of human gene mutation is described and the role of the local DNA sequence environment explored.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Additional Information:	Human genetic disease, analysis, diagnosis, nature of gene mutation.
Publisher:	Informa Healthcare
ISSN:	0785-3890
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62029

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