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16. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. Fuchshuber A; Mucha B; Baumgartner ER; Vollmer M; Hildebrandt F Hum Mutat; 2000 Aug; 16(2):179. PubMed ID: 10923046 [TBL] [Abstract][Full Text] [Related]
17. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. Mikami H; Ogasawara M; Matsubara Y; Kikuchi M; Miyabayashi S; Kure S; Narisawa K J Hum Genet; 1999; 44(1):35-9. PubMed ID: 9929975 [TBL] [Abstract][Full Text] [Related]
18. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Ogasawara M; Matsubara Y; Mikami H; Narisawa K Hum Mol Genet; 1994 Jun; 3(6):867-72. PubMed ID: 7951229 [TBL] [Abstract][Full Text] [Related]
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