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

doi:10.1007/BF00217779

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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 hi...

Topics

DNA Mutational Analysis
Dinucleoside Phosphates
Factor IX
Gene Expression
Haplotypes
Hemophilia B
Humans
Male
Mutation
Severity of Illness Index

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