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Journal Abstract Search

175 related items for PubMed ID: 10071201

  • 1. Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.
    Frostad Riise HM, Hansen GM, Tollersrud OK, Nilssen O.
    Hum Genet; 1999 Jan; 104(1):106-7. PubMed ID: 10071201
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  • 2. Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats.
    Berg T, Tollersrud OK, Walkley SU, Siegel D, Nilssen O.
    Biochem J; 1997 Dec 15; 328 ( Pt 3)(Pt 3):863-70. PubMed ID: 9396732
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  • 3. alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis.
    Berg T, Hopwood JJ.
    Biochim Biophys Acta; 2002 Mar 16; 1586(2):169-76. PubMed ID: 11959458
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  • 4. Spectrum of mutations in alpha-mannosidosis.
    Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O.
    Am J Hum Genet; 1999 Jan 16; 64(1):77-88. PubMed ID: 9915946
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  • 5. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
    Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK.
    Hum Mol Genet; 1997 May 16; 6(5):717-26. PubMed ID: 9158146
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  • 6. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
    Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T.
    Am J Hum Genet; 1998 Oct 16; 63(4):1015-24. PubMed ID: 9758606
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  • 10. Recent progress in lysosomal alpha-mannosidase and its deficiency.
    Sun H, Wolfe JH.
    Exp Mol Med; 2001 Mar 31; 33(1):1-7. PubMed ID: 11322479
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  • 12. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.
    Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH.
    Mol Genet Metab; 2002 Dec 31; 77(4):282-90. PubMed ID: 12468273
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  • 13. Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
    Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JG, Blom W, Van Diggelen OP, Seemanova E, Macek M.
    J Inherit Metab Dis; 1990 Dec 31; 13(6):867-72. PubMed ID: 2079835
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