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Journal Abstract Search

167 related items for PubMed ID: 7607677

  • 1. Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
    Hori T, Tomatsu S, Nakashima Y, Uchiyama A, Fukuda S, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Horiuchi T.
    Genomics; 1995 Apr 10; 26(3):535-42. PubMed ID: 7607677
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  • 2. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T.
    Am J Med Genet; 1996 Jun 28; 63(4):558-65. PubMed ID: 8826435
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  • 3. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
    Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T.
    Hum Mutat; 1996 Jun 28; 7(2):123-34. PubMed ID: 8829629
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  • 4. Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K.
    Am J Hum Genet; 1995 Sep 28; 57(3):556-63. PubMed ID: 7668283
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  • 5. Molecular genetic assay of mucopolysaccharidosis IVA in South China.
    He D, Huang Y, Ou Z, Sheng H, Li S, Zhao X, Li R, Zheng J, Liu L.
    Gene; 2013 Dec 10; 532(1):46-52. PubMed ID: 24035930
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  • 6. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
    Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS.
    Genomics; 1994 Aug 10; 22(3):652-4. PubMed ID: 8001980
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  • 7. Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
    Li R, Baskfield A, Beers J, Zou J, Liu C, Alméciga-Díaz CJ, Zheng W.
    Stem Cell Res; 2019 Apr 10; 36():101408. PubMed ID: 30797135
    [Abstract] [Full Text] [Related]

  • 8. [Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
    Ye J, Lei HL, Zhang HW, Qiu WJ, Han LS, Wang Y, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Jun 10; 51(6):414-9. PubMed ID: 24120057
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  • 9. Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
    Wang L, Ou X, Sebesta I, Vondrak K, Krijt J, Elleder M, Poupetova H, Ledvinova J, Zeman J, Simmonds HA, Tischfield JA, Sahota A.
    Mol Genet Metab; 1999 Sep 10; 68(1):78-85. PubMed ID: 10479485
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  • 17. Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
    Seyedhassani SM, Hashemi-Gorji F, Yavari M, Mirfakhraie R.
    Clin Chim Acta; 2015 Oct 23; 450():121-4. PubMed ID: 26276046
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  • 19. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
    Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N.
    Mol Genet Metab; 2014 Jun 23; 112(2):160-70. PubMed ID: 24726177
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  • 20. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
    Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T.
    Genomics; 1994 Mar 01; 20(1):99-104. PubMed ID: 8020961
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