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

doi:10.3109/07853899209164142

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Article

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

Annals of medicine - 1 Feb 1992

Cooper D N, Schmidtke J

Abstract excerpt

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 g...

Topics

Adult
Blotting, Northern
Blotting, Southern
Child
Chromosome Deletion
Cloning, Molecular
Disease Susceptibility
Genetic Diseases, Inborn
Genetic Markers
Genetics, Medical
Humans
Molecular Biology
Mutation
Prenatal Diagnosis

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