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Article

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Science (New York, N.Y.) - 6 Mar 1992

Fu Y H, Pizzuti A, Fenwick R G, King J, Rajnarayan S, Dunne P W, Dubel J, Nasser G A, Ashizawa T, de Jong P

Abstract excerpt

Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the...

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Identifiers

PMID: 1546326
DOI: 10.1126/science.1546326

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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