The genetic control of phenformin 4-hydroxylation

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Abstract

Previously published results of phenformin 4-hydroxylation in 195 unrelated white British volunteers and 87 family members of 27 randomly selected probands have been subjected to genetic analysis. The results clearly show that about 9% of this population has a genetically determined defect in carrying out this oxidation reaction. The character for the defect is inherited in a Mendelian autosomal recessive fashion. The polymorphism shows a substantial degree of dominance.

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Shah, R. R., Evans, D. A. P., & Oates, N. S. (1985). The genetic control of phenformin 4-hydroxylation. Journal of Medical Genetics, 22(5), 361–366. https://doi.org/10.1136/jmg.22.5.361

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