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Journal Abstract Search

334 related items for PubMed ID: 1671869

  • 1. 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
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  • 2. Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.
    Raff ML, Crane AM, Jansen R, Ledley FD, Rosenblatt DS.
    J Clin Invest; 1991 Jan; 87(1):203-7. PubMed ID: 1670635
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  • 3. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
    Crane AM, Jansen R, Andrews ER, Ledley FD.
    J Clin Invest; 1992 Feb; 89(2):385-91. PubMed ID: 1346616
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  • 4. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Feb; 11(4):270-4. PubMed ID: 9554742
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  • 7. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
    Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
    Hum Mutat; 2002 Nov; 20(5):406. PubMed ID: 12402345
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  • 8. 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
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  • 10. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
    Crane AM, Ledley FD.
    Am J Hum Genet; 1994 Jul; 55(1):42-50. PubMed ID: 7912889
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  • 11. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
    Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1975 Aug; 72(8):3181-5. PubMed ID: 1059104
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  • 12. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
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  • 13. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
    Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.
    Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192
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  • 15. 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
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  • 17. Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.
    Willard HF, Rosenberg LE.
    Biochem Genet; 1979 Feb; 17(1-2):57-75. PubMed ID: 36882
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  • 18. 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 28; 93(11):5550-5. PubMed ID: 8643613
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