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Journal Abstract Search

464 related items for PubMed ID: 15081804

  • 1. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
    Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA.
    J Mol Biol; 2004 Apr 30; 338(3):453-62. PubMed ID: 15081804
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  • 2. alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
    Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP.
    Hum Mutat; 1992 Apr 30; 1(4):333-9. PubMed ID: 1301941
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  • 4. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
    Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.
    Hum Mutat; 2004 Sep 30; 24(3):199-207. PubMed ID: 15300847
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  • 6. Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells.
    Ngiwsara L, Sawangareetrakul P, Wattanasirichaigoon D, Tim-Aroon T, Dejkhamron P, Champattanachai V, Ketudat-Cairns JR, Svasti J.
    Biochem Biophys Res Commun; 2022 Dec 25; 636(Pt 1):147-154. PubMed ID: 36332477
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  • 7. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
    Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.
    Hum Genet; 2001 Nov 25; 109(5):503-11. PubMed ID: 11735025
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  • 10. Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.
    Kamei M, Kasperski K, Fuller M, Parkinson-Lawrence EJ, Karageorgos L, Belakhov V, Baasov T, Hopwood JJ, Brooks DA.
    JIMD Rep; 2014 Nov 25; 13():139-47. PubMed ID: 24193436
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  • 13. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
    Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS.
    Hum Mutat; 1994 Nov 25; 3(3):275-82. PubMed ID: 8019563
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  • 20. [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
    Chkioua L, Khedhiri S, Jaidane Z, Ferchichi S, Habib S, Froissart R, Bonnet V, Chaabouni M, Dandana A, Jrad T, Limem H, Maire I, Abdelhedi M, Laradi S.
    Arch Pediatr; 2007 Oct 25; 14(10):1183-9. PubMed ID: 17728118
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