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Article

Over-representation of the disease associated (CAG) and (CGG) repeats in the human genome.

Nucleic acids research - 11 May 1994

Han J, Hsu C, Zhu Z, Longshore J W, Finley W H

Abstract excerpt

Expansion of trimer repeats has recently been described as a new type of human mutation. Of the 64 possible trimer compositions, only the CGG and CAG repeats have been implicated in genetic diseases. This study intends to address two questions: (1) What makes the CGG and CAG repeats unique? (2) Could other trimer repeats be involved in this type of mutation? By computer analysis of trimer and hexamer frequency...

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Identifiers

PMID: 8202379
DOI: 10.1093/nar/22.9.1735
PMCID: PMC308057

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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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