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

作者: David N. Cooper , Jörg Schmidtke

DOI: 10.3109/07853899209164142

关键词:

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

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