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Type: Journal article
Title: Dynamic mutations on the move in Banff
Author: La Spada, A.
Richards, R.
Wieringa, B.
Citation: Nature Genetics, 2004; 36(7):667-670
Publisher: Nature Publishing Group
Issue Date: 2004
ISSN: 1061-4036
Organisation: Centre for the Molecular Genetics of Development
Statement of
Albert R La Spada, Robert I Richards and Bé Wieringa
Abstract: The mechanisms involved in microsatellite repeat instability and the consequent pathways that lead to disease have fascinated investigators from a wide range of disciplines for over a decade. This fascination was sparked by the discovery of dynamic mutations as the cause of a number of important and enigmatic human genetic diseases, including fragile X syndrome, myotonic dystrophy and Huntington disease. A primary focus of current research that was discussed at the conference is the molecular basis of microsatellite repeat instability. Both the composition of the repeat sequence and the length of the repeat are primary determinants of the likelihood that a repeat will expand.
Keywords: Humans; Genetic Diseases, Inborn; Microsatellite Repeats; Mutation
RMID: 0020063314
DOI: 10.1038/ng0704-667
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Appears in Collections:Molecular and Biomedical Science publications
Centre for the Molecular Genetics of Development publications

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