Identification of the gene responsible for the <i>cblA</i> complementation group of vitamin B ₁₂ -responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

Abstract excerpt

Vitamin B(12) (cobalamin) is an essential cofactor of two enzymes, methionine synthase and methylmalonyl-CoA mutase. The conversion of the vitamin to its coenzymes requires a series of biochemical modifications for which several genetic diseases are known, comprising eight complementation groups (cblA through cblH). The objective of this study was to clone the gene responsible for the cblA complementation group...

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