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Review
. 1992 Feb;24(1):29-42.
doi: 10.3109/07853899209164142.

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

D N Cooper  1 , J Schmidtke
Affiliations
Review

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

D N Cooper et al. Ann Med. 1992 Feb.

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.

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