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Journal Abstract Search

405 related items for PubMed ID: 19659762

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  • 3. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
    Liu S, Zhang W, Shi H, Meng Y, Qiu Z.
    Gene; 2014 Feb 10; 535(2):294-8. PubMed ID: 24316125
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  • 4. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
    Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV.
    Gene; 2013 Jul 15; 524(1):59-64. PubMed ID: 23566849
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  • 6. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
    Kudo M, Brem MS, Canfield WM.
    Am J Hum Genet; 2006 Mar 15; 78(3):451-63. PubMed ID: 16465621
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  • 11. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
    Tiede S, Cantz M, Spranger J, Braulke T.
    Hum Mutat; 2006 Aug 15; 27(8):830-1. PubMed ID: 16835905
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  • 13. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
    Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A.
    J Hum Genet; 2020 Nov 15; 65(11):971-984. PubMed ID: 32651481
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  • 14. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
    Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T.
    Biochim Biophys Acta; 2009 Mar 15; 1792(3):221-5. PubMed ID: 19708128
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  • 15. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
    Yang M, Cho SY, Park HD, Choi R, Kim YE, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK.
    Orphanet J Rare Dis; 2017 Jan 17; 12(1):11. PubMed ID: 28095893
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  • 20. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis.
    Sun Q, Li J, Wang C, Huang X, Huang H, Du D, Liang Y, Han H.
    Gene; 2005 Feb 28; 347(1):55-64. PubMed ID: 15716021
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