| 1 | GUSB, MPS7
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| Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).
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| Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, Hrdlickova E, Tesarova M, Elleder M, Zeman J, Meek KM, Knupp C, Quantock AJ.
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| Invest Ophthalmol Vis Sci. 52(9):6720-8. 2011
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| 2 | GUSB, MPS7
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| Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
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| Tomatsu S, Montaņo AM, Dung VC, Grubb JH, Sly WS.
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| Hum Mutat 30(4):511-9. Review.
2009
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| 3 | GUSB, MPS7
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| Mechanism of shortened bones in mucopolysaccharidosis VII.
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| Metcalf JA, Zhang Y, Hilton MJ, Long F, Ponder KP.
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| Mol Genet Metab 97(3):202-11. Epub 2009 Mar 25.
2009
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| 4 | MPS7, GUSB
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| PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.
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| Islam MR, Shah GN, Sly WS.
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| Genet Test 11(1):72-4. 2007
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| 5 | MPS7, GUSB
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| Recurrent fetal hydrops due to mucopolysaccharidoses type VII.
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| Venkat-Raman N, Sebire NJ, Murphy KW.
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| Fetal Diagn Ther 21(3):250-4. Review. 2006
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| 6 | GUSB, MPS7
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| General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
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| Tomatsu S, Orii KO, Bi Y, Gutierrez MA, Nishioka T, Yamaguchi S, Kondo N, Orii T, Noguchi A, Sly WS.
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| Hum Mutat 23(6):590-8. 2004
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| 7 | MPS7
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| Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
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| Schwartz I, Silva LR, Leistner S, Todeschini LA, Burin MG, Pina-Neto JM, Islam RM, Shah GN, Sly WS, Giugliani R.
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| Clin Genet 64(2):172-5. No abstract available.
2003
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| 8 | MPS7
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| Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
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| Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T.
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| Hum Genet 112(2):190-4. Epub 2002 Nov 5.
2003
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| 9 | GUSB, MPS7
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| Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
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| Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W.
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| Hum Genet 102(1):69-78. 1998
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| 10 | GUSB, MPS7
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| Molecular analysis of the beta-glucuronidase gene : novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
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| Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W.
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| Hum Genet 99(4):462-8. 1997
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| 11 | GUSB, MPS7
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| Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
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| Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W.
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| Am J Hum Genet 58(3):457-71. 1996
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| 12 | GUSB, MPS7
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| Beta-glucuronidase P408S, P415L mutations : evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.
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| Islam MR, Vervoort R, Lissens W, Hoo JJ, Valentino LA, Sly WS.
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| Hum Genet 98(3):281-4. 1996
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| 13 | MPS7, GUSB
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| Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
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| Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T.
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| Hum Mol Genet 4(4):651-5. 1995
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| 14 | MPS7, GUSB
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| Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
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| Wu BM, Sly WS.
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| Hum Mutat 2(6):446-57. 1993
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| 15 | GUSB, GUSBP1, GUSBL1, GUSBP3, GUSBP5, GUSBP6, GUSBP7, MPS7
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| Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
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| Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS.
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| Am J Hum Genet 52(3):517-26. 1993
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| 16 | GUSB, MPS7
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| Mucopolysaccharidosis type VII : characterization of mutations and molecular heterogeneity.
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| Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S, et al.
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| Am J Hum Genet 48(1):89-96. 1991
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| 17 | GUSB, MPS7
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| Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis.
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| Irani D, Kim HS, El-Hibri H, Dutton RV, Beaudet A, Armstrong D.
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| Ann Neurol 14(4):486-90. 1983
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| 18 | GUSB, MPS7
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| Beta glucuronidase deficiency : report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
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| Sly WS, Quinton BA, McAlister WH, Rimoin DL.
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| J Pediatr 82(2):249-57. 1973
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