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Review
. 1987 Sep;40(9):959-70.
doi: 10.1136/jcp.40.9.959.

Molecular pathology of single gene disorders

Affiliations
Review

Molecular pathology of single gene disorders

D J Weatherall. J Clin Pathol. 1987 Sep.

Abstract

Recent studies using recombinant DNA technology have led to an understanding of the basic molecular pathology of single gene disorders. Furthermore, methods are being developed for finding genes for conditions, whose underlying biochemistry is still not understood, or which may contribute to polygenic systems that underlie common diseases. As well as providing new approaches to carrier detection, prenatal diagnosis, and treatment of single gene disorders, these advances promise to provide important information about the pathophysiology of many common polygenic diseases.

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