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Article

Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines.

Human genetics - 1 Aug 1996

Kramer P R, Pearson C E, Sinden R R

Abstract excerpt

At least nine human genetic diseases, including myotonic dystrophy (DM) and fragile X syndrome have been associated with the expansion of CTG or CGG trinucleotide repeats within the disease loci. Little is known about the molecular mechanisms or the genetic control of the expansion of triplet repeats. Mutations in human mismatch repair genes are associated with the increased polymorphism of many microsatellites,...

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Identifiers

PMID: 8698331
DOI: 10.1007/s004390050179

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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