| 1 | GALNS, MPS4A
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| Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.
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| Bank RA, Groener JE, van Gemund JJ, Maaswinkel PD, Hoeben KA, Schut HA, Everts V.
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| Mol Genet Metab 97(3):196-201. Epub 2009 Mar 28.
2009
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| 2 | MPS4A
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| Growth charts for patients affected with Morquio A disease.
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| Montaņo AM, Tomatsu S, Brusius A, Smith M, Orii T.
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| Am J Med Genet A 146A(10):1286-95.
2008
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| 3 | GALNS, MPS4A
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| Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates.
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| Bhattacharyya S, Kotlo K, Shukla S, Danziger RS, Tobacman JK.
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| J Biol Chem 283(15):9523-30. Epub 2008 Feb 18.
2008
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| 4 | MPS4A, GALNS
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| Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
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| Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.
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| Mol Genet Metab 87(3):213-8. 2006
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| 5 | MPS4A, GALNS
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| Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
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| Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montano AM, Vieira MB, Trandafirescu GG, Pena OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L.
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| Hum Mol Genet 14(22):3321-35. Epub 2005 Oct 11. 2005
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| 6 | MPS4A, GALNS
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| Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
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| Tomatsu S, Montano AM, Nishioka T, Gutierrez MA, Pena OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T.
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| Hum Mutat 26(6):500-12. 2005
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| 7 | MPS4A, GALNS
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| Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
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| Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montano AM, Yamaguchi S, Noguchi A.
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| J Hum Genet 49(9):490-4. Epub 2004 Aug 11. 2004
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| 8 | GALNS, MPS4A
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| Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
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| Sukegawa K, Nakamura H, Kato Z, Tomatsu S, Montano AM, Fukao T, Toietta G, Tortora P, Orii T, Kondo N.
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| Hum Mol Genet 9(9):1283-90. 2000
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| 9 | GALNS, MPS4A
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| Clinical, biochemical and molecular findings in a two-generation Morquio A family.
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| Tylki-Szymanska A, et al.
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| Clin Genet 53 : 369-374. 1998
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| 10 | GALNS, MPS4A
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| Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.
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| Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montano AM, Hopwood JJ, Muller V, Orii T, Kondo N.
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| Jpn J Hum Genet 42(2):317-22. 1997
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| 11 | GALNS, MPS4A
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| Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
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| Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A.
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| Hum Mutat 10(3):223-32. 1997
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| 12 | GALNS, MPS4A
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| A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
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| Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N.
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| Hum Genet 101(1):97-101. 1997
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| 13 | GALNS, MPS4A
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| Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
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| Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T.
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| Hum Mutat 10(5):368-75. 1997
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| 14 | GALNS, MPS4A
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| Mucopolysaccharidosis IVA : submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
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| Fukuda S, et al.
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| Hum Mutat 7 : 123-134. 1996
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| 15 | MPS4A, GALNS
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| Mucopolysaccharidosis IVA : four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
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| Tomatsu S, et al.
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| Am J Hum Genet 58 : 950-962. 1996
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| 16 | MPS4A, ARSB
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| Identification, expression, and biochemical characterization of N-acetylgalactosamine-4- sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
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| Litjens T, et al.
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| Am J Hum Genet 58 : 1127-1134. 1996
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| 17 | GALNS, MPS4A
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| Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
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| Cole DEC, et al.
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| Am J Med Genet 63 : 558-565. 1996
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| 18 | MPS4A, GALNS
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| Mucopolysaccharidosis IVA : polymorphic haplotypes and informative RFLPs in the Japanese population.
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| Iwata H, et al.
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| Hum Genet 95 : 257-264. 1995
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| 19 | MPS4A, GALNS
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| Mucopolysaccharidosis IVA : structural gene alterations identified by Southern blot analysis and identification of racial differences.
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| Tomatsu S, et al.
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| Hum Genet 95 : 376-381. 1995
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| 20 | GALNS, MPS4A
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| Mucopolysaccharidosis IVA : screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
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| Ogawa T, et al.
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| Hum Mol Genet 4 : 341-349. 1995
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| 21 | GALNS, MPS4A
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| Mucopolysaccharidosis type IVA : identification of six novel mutations among non-Japanese patients.
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| Tomatsu S, et al.
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| Hum Mol Genet 4 : 741-743. 1995
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| 22 | MPS4A, GALNS
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| Mucopolysaccharidosis type IVA : common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
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| Hori T, et al.
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| Genomics 26 : 535-542. 1995
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| 23 | GALNS, MPS4A
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| Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
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| Tomatsu S, et al.
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| Hum Mutat 6 : 195-196. 1995
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| 24 | MPS4A, GALNS
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| Mucopolysaccharidosis IVA : identification of a common missense mutation I113F in the N-acetylgalactosamine-6-sulfate sulfatase gene.
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| Tomatsu S, et al.
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| Am J Hum Genet 57 : 556-563. 1995
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| 25 | MPS4A, GALNS
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| Mucopolysaccharidosis IV A : molecular cloning of the human N-Acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
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| Nakashima Y, et al.
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| Genomics 20 : 99-104. 1994
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| 26 | MPS4A, GALNS
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| A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
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| Tomatsu S, et al.
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| Hum Mol Genet 3 : 1427-1428. 1994
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| 27 | GALNS, MPS4A
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| Morquio A syndrome : cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
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| Morris CP, et al.
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| Genomics 22 : 652-654. 1994
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| 28 | MPS4A, GALNS
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| Mucopolysaccharidosis IV A : assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
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| Masuno M, et al.
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| Genomics 16 : 777-778. 1993
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| 29 | MPS4A, GALNS
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| Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
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| Fukuda S, et al.
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| J Clin Invest 90 : 1049-1053. 1992
|