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Article

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

Human genetics - 1 Jun 1990

Cooper D N, Krawczak M

Abstract excerpt

Reports of single base-pair substitutions that cause human genetic disease and that have been located and characterized in an unbiased fashion were collated; 32% of point mutations were CG----TG or CG----CA transitions consistent with a chemical model of mutation via methylation-mediated deamination. This represents a 12-fold higher frequency than that predicted from random expectation, confirming that CG...

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Identifiers

PMID: 2192981
DOI: 10.1007/BF00276326

Genes

TG

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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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