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• W2053919212 startingPage "1823" @default.
• W2053919212 abstract "The discovery of unstable transmission has changed the face of genetics because it provides an alternative to the single-gene/single-trait pattern of Mendelian inheritance. More than 10 hereditary diseases are caused by instability at simple trinucleotides. Expansion causes disease when a particular base sequence is repeated beyond the normal range, interfering with the expression or properties of a gene product (1–2). As the length of the repeat grows, so also do the size of the successive expansions and the likelihood of another unstable event. This accounts for clinical anticipation in which the severity increases and the age of onset decreases in successive generations. In Huntington’s disease, for example, instability and pathogenesis are not observed at 28 repeats, occur frequently at 38 repeats, and are almost certain above 60 repeats. Although different genes are affected and different features of pathogenesis are evident, there is a common pattern of unstable transmission among the trinucleotide repeat diseases, suggesting common elements to the mechanism." @default.
• W2053919212 created "2016-06-24" @default.
• W2053919212 creator A5058921608 @default.
• W2053919212 date "1999-03-02" @default.
• W2053919212 modified "2023-10-08" @default.
• W2053919212 title "DNA secondary structure: A common and causative factor for expansion in human disease" @default.
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• W2053919212 doi "https://doi.org/10.1073/pnas.96.5.1823" @default.
• W2053919212 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/33527" @default.
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