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9. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. Berger I; Shaag A; Anikster Y; Baumgartner ER; Bar-Meir M; Joseph A; Elpeleg ON Mol Genet Metab; 2001 May; 73(1):107-10. PubMed ID: 11350191 [TBL] [Abstract][Full Text] [Related]
10. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Dobson CM; Wai T; Leclerc D; Wilson A; Wu X; Doré C; Hudson T; Rosenblatt DS; Gravel RA Proc Natl Acad Sci U S A; 2002 Nov; 99(24):15554-9. PubMed ID: 12438653 [TBL] [Abstract][Full Text] [Related]
11. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. Lempp TJ; Suormala T; Siegenthaler R; Baumgartner ER; Fowler B; Steinmann B; Baumgartner MR Mol Genet Metab; 2007 Mar; 90(3):284-90. PubMed ID: 17113806 [TBL] [Abstract][Full Text] [Related]
12. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Dobson CM; Gradinger A; Longo N; Wu X; Leclerc D; Lerner-Ellis J; Lemieux M; Belair C; Watkins D; Rosenblatt DS; Gravel RA Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. Drennan CL; Matthews RG; Rosenblatt DS; Ledley FD; Fenton WA; Ludwig ML Proc Natl Acad Sci U S A; 1996 May; 93(11):5550-5. PubMed ID: 8643613 [TBL] [Abstract][Full Text] [Related]
15. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. Thomä NH; Leadlay PF Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts. Wilkemeyer MF; Crane AM; Ledley FD J Clin Invest; 1991 Mar; 87(3):915-8. PubMed ID: 1671869 [TBL] [Abstract][Full Text] [Related]