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Article

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.

Human genetics - 1 Jun 1993

Bottema C D, Ketterling R P, Vielhaber E, Yoon H S, Gostout B, Jacobson D P, Shapiro A, Sommer S S

Abstract excerpt

Mutations at CpG dinucleotides were delineated in the factor IX gene of 38 hemophilia B patients. When transitions at CpG were considered with those previously reported by us and those compiled in the factor IX mutation database, the following patterns emerged. Many CpG sites were mutated with high frequency, while two CpG sites were infrequently mutated (R29-->Q and R116-->TGA). Of the 6 possible nonsense...

Read the complete abstract on PubMed

Topics

DNA Mutational Analysis
Dinucleoside Phosphates
Factor IX
Gene Expression
Haplotypes
Hemophilia B

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Humans

Male

Mutation

Severity of Illness Index

Source

Identifiers

PMID: 8314564
DOI: 10.1007/BF00217779

Provenance

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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The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.PMID 8314564Read ↗

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