Unstable triplet repeat diseases

Monckton, D.G. and Caskey, C.T. (1995) Unstable triplet repeat diseases. Circulation, 91(2), 513 -520.

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Publisher's URL: http://circ.ahajournals.org/cgi/content/abstract/91/2/513

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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Monckton, Professor Darren
Authors: Monckton, D.G., and Caskey, C.T.
Subjects:R Medicine > RC Internal medicine
Q Science > QH Natural history > QH426 Genetics
College/School:College of Medical Veterinary and Life Sciences > School of Molecular Biosciences
Journal Name:Circulation
ISSN:0009-7322

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