Dynamic mutations on the move in Banff

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dc.contributor.authorLa Spada, A.
dc.contributor.authorRichards, R.
dc.contributor.authorWieringa, B.
dc.contributor.organisationCentre for the Molecular Genetics of Development
dc.date.issued2004
dc.description.abstractThe 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.
dc.description.statementofresponsibilityAlbert R La Spada, Robert I Richards and Bé Wieringa
dc.identifier.citationNature Genetics, 2004; 36(7):667-670
dc.identifier.doi10.1038/ng0704-667
dc.identifier.issn1061-4036
dc.identifier.issn1546-1718
dc.identifier.urihttp://hdl.handle.net/2440/34758
dc.language.isoen
dc.publisherNature Publishing Group
dc.source.urihttp://www.nature.com/ng/journal/v36/n7/abs/ng0704-667.html
dc.subjectHumans
dc.subjectGenetic Diseases, Inborn
dc.subjectMicrosatellite Repeats
dc.subjectMutation
dc.titleDynamic mutations on the move in Banff
dc.typeJournal article
pubs.publication-statusPublished

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