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(Circulation. 1995;91:513-520.)
© 1995 American Heart Association, Inc.

Articles

Unstable Triplet Repeat Diseases

Darren G. Monckton, PhD; C. Thomas Caskey, MD

From the Department of Molecular and Human Genetics, Howard Hughes Medical Institute and Human Genome Center, Baylor College of Medicine, Houston, Tex.

Abstract Seven inherited human disorders are now associated with the intragenic expansion of triplet repeat DNA sequences. These repeats demonstrate extreme instability in both germline and somatic tissue, accounting for the unusual genetic inheritance patterns and symptom variability associated with these diseases.

Key Words: diagnosis • genes • molecular biology • nucleotides • hereditary diseases • polymerase chain reaction

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