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[Methylation of the factor IX gene--a basic reason for the mutation causing hemophilia B].

Molekuliarnaia biologiia - 1 Jan 2000

Mazin A L

Abstract excerpt

The analysis of 750 mutations in the gene of blood coagulation factor IX has been made for 806 patients with haemophilia B. It has been found that 40% of all point mutations take place in 11 "hot spots", i.e., methylated CG sites, and are CG-->TG or CA transitions. Mechanism proposed explains the high rate of these transitions by m5C deamination during replicative DNA methylation and by mistakes of G/T-repair....

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PMID: 7723765

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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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