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MMADHC Premature Termination Codons in the Pathogenesis of Cobalamin D Disorder: Potential of Translational Readthrough Reconstitution
(Elsevier, 2021-03)
Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria ...