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Journal Abstract Search

174 related items for PubMed ID: 27180337

  • 1. A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.
    Hashemi-Gorji F, Ghafouri-Fard S, Salehpour S, Yassaee VR, Miryounesi M.
    J Pediatr Endocrinol Metab; 2016 Aug 01; 29(8):991-3. PubMed ID: 27180337
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  • 2. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
    Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW.
    Acta Pharmacol Sin; 2019 Feb 01; 40(2):279-287. PubMed ID: 29872134
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  • 3. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
    Ho CC, Tsung LL, Liu KT, Poon WT.
    BMC Med Genet; 2018 Sep 12; 19(1):162. PubMed ID: 30208878
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  • 4. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
    Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.
    Clin Genet; 2009 Jul 12; 76(1):76-84. PubMed ID: 19659762
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  • 5. 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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  • 8. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
    Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S.
    Hum Mutat; 2019 Jul 15; 40(7):842-864. PubMed ID: 30882951
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  • 9. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
    De Pace R, Coutinho MF, Koch-Nolte F, Haag F, Prata MJ, Alves S, Braulke T, Pohl S.
    Hum Mutat; 2014 Mar 15; 35(3):368-76. PubMed ID: 24375680
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  • 11. 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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  • 12. Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
    Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S.
    Hum Mutat; 2020 Jan 17; 41(1):133-139. PubMed ID: 31579991
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  • 15. Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.
    Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S.
    J Pediatr Endocrinol Metab; 2016 Oct 01; 29(10):1225-1228. PubMed ID: 27710913
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  • 17. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
    Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N.
    J Hum Genet; 2009 Mar 01; 54(3):145-51. PubMed ID: 19197337
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  • 18. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
    Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ.
    J Med Genet; 2010 Jan 01; 47(1):38-48. PubMed ID: 19617216
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  • 19. Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
    Khan MA, Zubaida B, Karim N, Cheema HA, Naeem M.
    J Pediatr Endocrinol Metab; 2020 May 26; 33(5):647-651. PubMed ID: 32238606
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  • 20. Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.
    Yang Y, Wu J, Liu H, Chen X, Wang Y, Zhao M, He X.
    Genomics; 2013 Sep 26; 102(3):169-73. PubMed ID: 23773965
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