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188 related items for PubMed ID: 10594236

  • 1. Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes.
    Leipprandt JR, Chen H, Horvath JE, Qiao XT, Jones MZ, Friderici KH.
    Mamm Genome; 1999 Dec; 10(12):1137-41. PubMed ID: 10594236
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
    Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T.
    Br J Dermatol; 2003 Jul 15; 149(1):23-9. PubMed ID: 12890191
    [Abstract] [Full Text] [Related]

  • 4. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
    Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH.
    Hum Mol Genet; 1998 Jan 15; 7(1):75-83. PubMed ID: 9384606
    [Abstract] [Full Text] [Related]

  • 5. Molecular heterogeneity for bovine alpha-mannosidosis: PCR based assays for detection of breed-specific mutations.
    Berg T, Healy PJ, Tollersrud OK, Nilssen O.
    Res Vet Sci; 1997 Jan 15; 63(3):279-82. PubMed ID: 9491457
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis.
    Leipprandt JR, Kraemer SA, Haithcock BE, Chen H, Dyme JL, Cavanagh KT, Friderici KH, Jones MZ.
    Genomics; 1996 Oct 01; 37(1):51-6. PubMed ID: 8921369
    [Abstract] [Full Text] [Related]

  • 8. Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection.
    Cavanagh KT, Jones MZ, Abbitt B, Skinner R.
    J Vet Diagn Invest; 1992 Oct 01; 4(4):434-40. PubMed ID: 1457547
    [Abstract] [Full Text] [Related]

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  • 10. Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis.
    Tollersrud OK, Berg T, Healy P, Evjen G, Ramachandran U, Nilssen O.
    Eur J Biochem; 1997 Jun 01; 246(2):410-9. PubMed ID: 9208932
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 6(5):717-26. PubMed ID: 9158146
    [Abstract] [Full Text] [Related]

  • 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 01; 77(4):282-90. PubMed ID: 12468273
    [Abstract] [Full Text] [Related]

  • 13. Inheritance of beta-mannosidosis in goats.
    Fisher RA, Rathke EJ, Kelley JA, Dunstan RW, Cavanagh K, Jones MZ.
    Anim Genet; 1986 Dec 01; 17(2):183-90. PubMed ID: 3740554
    [Abstract] [Full Text] [Related]

  • 14. Beta-mannosidosis in twelve Salers calves.
    Abbitt B, Jones MZ, Kasari TR, Storts RW, Templeton JW, Holland PS, Castenson PE.
    J Am Vet Med Assoc; 1991 Jan 01; 198(1):109-13. PubMed ID: 1995562
    [Abstract] [Full Text] [Related]

  • 15. The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis.
    Sewell CA, Healy PJ.
    Aust Vet J; 1985 Aug 01; 62(8):286-8. PubMed ID: 4062743
    [No Abstract] [Full Text] [Related]

  • 16. 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 01; 104(1):106-7. PubMed ID: 10071201
    [Abstract] [Full Text] [Related]

  • 17. Molecular cloning and characterization of bovine beta-mannosidase.
    Chen H, Leipprandt JR, Traviss CE, Sopher BL, Jones MZ, Cavanagh KT, Friderici KH.
    J Biol Chem; 1995 Feb 24; 270(8):3841-8. PubMed ID: 7876128
    [Abstract] [Full Text] [Related]

  • 18. Bovine kidney beta-mannosidase: purification and characterization.
    Sopher BL, Traviss CE, Cavanagh KT, Jones MZ, Friderici KH.
    Biochem J; 1993 Jan 15; 289 ( Pt 2)(Pt 2):343-7. PubMed ID: 8424779
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 63(4):1015-24. PubMed ID: 9758606
    [Abstract] [Full Text] [Related]

  • 20. Mammalian beta-D-mannosidase and beta-mannosidosis.
    Percheron F, Foglietti MJ, Bernard M, Ricard B.
    Biochimie; 1992 Jan 15; 74(1):5-11. PubMed ID: 1576208
    [Abstract] [Full Text] [Related]

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