Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11508
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Type: Journal article
Title: Dynamic mutation: possible mechanisms and significance in human disease
Author: Richards, R.
Sutherland, G.
Citation: Trends in Biochemical Sciences, 1997; 22(11):432-437
Publisher: ELSEVIER SCI LTD
Issue Date: 1997
ISSN: 0968-0004
Abstract: Increases in repeat-DNA copy number are the molecular basis of a growing list of human genetic diseases, including fragile X syndrome, myotonic dystrophy, Huntington disease and a form of epilepsy. Repeat-DNA sequences undergo a unique process of dynamic mutation, the common properties of which probably reflect common molecular events. This form of mutation is no longer restricted to trinucleotide repeats, because repeats of different length have been found to undergo expansion.
Keywords: Humans; Genetic Diseases, Inborn; Repetitive Sequences, Nucleic Acid; Mutation
RMID: 0030004262
DOI: 10.1016/S0968-0004(97)01108-0
Appears in Collections:Genetics publications

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