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Frequency of abnormal human haemoglobins caused by C----T transitions in CpG dinucleotides.

Bollettino della Societa italiana di biologia sperimentale - 1 Sept 1990

Perutz M F

Abstract excerpt

A large part of human genetic disease apparently arises from deamination of cytosines in methylated CpG dinucleotides. Their mutation rate is known to be high when C is present as 5-methyl-cytosine, but is believed to be normal when it is unmethylated. The beta-globin gene contains five, the gamma-globin gene two, and each of the alpha-globin genes contain 35 CpG's. The CpG's in the beta-and gamma-globin genes...

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PMID: 2073381

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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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