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- W2125492442 endingPage "728" @default.
- W2125492442 startingPage "703" @default.
- W2125492442 abstract "Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or 10-1000 times normal lengths. The smaller expansions are found within genes coding for polyglutamine and are associated with neurodegenerative diseases. The larger expansions are most commonly associated with chromosomal fragile sites and can be found isolated or in the untranslated regions of genes. Expanded alleles of all these loci exhibit remarkable meiotic instability, frequently lengthening upon transmission. Since the abnormal repeat length can be correlated with incomplete penetrance and/or variable expressivity, the elongation in subsequent generations explains the genetic anticipation in these disorders." @default.
- W2125492442 created "2016-06-24" @default.
- W2125492442 creator A5017447734 @default.
- W2125492442 creator A5042222489 @default.
- W2125492442 date "1995-12-01" @default.
- W2125492442 modified "2023-10-11" @default.
- W2125492442 title "TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE" @default.
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