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Unstable triplet repeat diseases

Monckton, D.G., and Caskey, C.T. (1995) Unstable triplet repeat diseases. Circulation, 91 (2). 513 -520. ISSN 0009-7322

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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:Article
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Monckton, Prof 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 > Institute of Molecular Cell and Systems Biology
Journal Name:Circulation
ISSN:0009-7322

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