Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
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DOI: 10.1038/s41436-019-0640-9
Abstract: Purpose Our laboratory has classified patients with methylmalonic aciduria using somatic cell studies for over four decades. We have accumulated 127 fibroblast lines from patients with persistent elevated methylmalonic acid (MMA) levels in which no… read more here.
Keywords: genome rna; cause; methylmalonic aciduria; rna ... See more keywords