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  • Molecular assay reagents intended to identify mutations in the methylmalonic aciduria (cobalamin deficiency) type A (MMAA) gene, located at chromosome 4q31.21, which encodes for a protein involved in the formation of adenosylcobalamin. Adenosylocoalamin is required for the normal function of methylmalonyl-CoA mutase, which breaks down certain proteins, fats, and cholesterol. Mutations at this locus have been identified in patients with early-onset methylmalonic acidemia (MMA).
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