Title : Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).

Pub. Date : 2007 Oct

PMID : 17823972






4 Functional Relationships(s)
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1 Two patients who excrete methylmalonic acid have recently been shown to have a homozygous nonsense mutation in the gene coding for methylmalonyl CoA epimerase (MCEE). Methylmalonic Acid methylmalonyl-CoA epimerase Homo sapiens
2 Two patients who excrete methylmalonic acid have recently been shown to have a homozygous nonsense mutation in the gene coding for methylmalonyl CoA epimerase (MCEE). Methylmalonic Acid methylmalonyl-CoA epimerase Homo sapiens
3 To further understand the cause of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients with elevations of methylmalonic acid excretion for which no cause was known. Methylmalonic Acid methylmalonyl-CoA epimerase Homo sapiens
4 To further understand the cause of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients with elevations of methylmalonic acid excretion for which no cause was known. Methylmalonic Acid methylmalonyl-CoA epimerase Homo sapiens