| 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
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| Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders.
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| Meng XL, Shen JS, Kawagoe S, Ohashi T, Brady RO, Eto Y.
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| Proc Natl Acad Sci U S A. 107(17):7886-91. 2010
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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | GUSB
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| Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample.
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| Gratz M, Kunert-Keil C, John U, Cascorbi I, Kroemer HK.
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| Pharmacogenet Genomics 15(12):875-81.
2005
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| 8 | 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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| 9 | GUSB
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| Methylation Patterns of the Human beta-Glucuronidase Gene Locus: Boundaries of Methylation and General Implications for Frequent Point Mutations at CpG Dinucleotides.
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| Tomatsu S, Orii KO, Islam MR, Shah GN, Grubb JH, Sukegawa K, Suzuki Y, Orii T, Kondo N, Sly WS.
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| Genomics 79(3):363-75. 2002
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| 10 | GUSB
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| Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
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| Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, Sly WS.
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| Proc Natl Acad Sci U S A. 99(23):14982-7. 2002
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| 11 | GUSB
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| A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.
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| Vogler C, Levy B, Galvin N, Sands MS, Birkenmeier EH, Sly WS, Barker J.
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| Pediatr Res. 49(3):342-8. 2001
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| 12 | GUSB
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| Human egasyn binds beta-glucuronidase but neither the esterase active site of egasyn nor the C terminus of beta-glucuronidase is involved in their interaction.
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| Islam MR, Waheed A, Shah GN, Tomatsu S, Sly WS.
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| Arch Biochem Biophys. 372(1):53-61. 1999
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| 13 | 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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| 14 | GUSB
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| A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.
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| Vervoort R, Gitzelmann R, Lissens W, Liebaers I.
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| Hum Genet 103 : 686-693. 1998
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| 15 | GUSB
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| Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.
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| Ray J, Bouvet A, DeSanto C, Fyfe JC, Xu D, Wolfe JH, Aguirre GD, Patterson DF, Haskins ME, Henthorn PS.
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| Genomics. 48(2):248-53. 1998
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| 16 | 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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| 17 | 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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| 18 | GUSB, GUSBP1, GUSBL1
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| Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21-q11.22 and two pseudogenes to 5p13 and 5q13.
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| Speleman F, Vervoort R, van Roy N, Liebaers I, Sly WS, Lissens W.
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| Cytogenet Cell Genet 72(1):53-5. 1996
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| 19 | 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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| 20 | GUSB
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| A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
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| Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W.
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| Am J Hum Genet 57(4):798-804. 1995
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| 21 | 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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| 22 | GUSB
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| Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.
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| Gitzelmann R, Bosshard NU, Superti-Furga A, Spycher MA, Briner J, Wiesmann U, Lutz H, Litschi B.
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| Vet Pathol. 31(4):435-43. 1994
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| 23 | GUSB
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| Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
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| Vervoort R, Lissens W, Liebaers I.
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| Hum Mutat 2(6):443-5. 1993
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| 24 | 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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| 25 | 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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| 26 | GUSB
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| The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase.
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| Shipley JM, Grubb JH, Sly WS.
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| J Biol Chem. 268(16):12193-8. 1993
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| 27 | GUSB
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| Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer.
|
| Wolfe JH, Sands MS, Barker JE, Gwynn B, Rowe LB, Vogler CA, Birkenmeier EH.
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| Nature. 360(6406):749-53. 1992
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| 28 | GUSB, SERPINE1
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| Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21-q22.
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| Schwartz CE, Stanislovitis P, Phelan MC, Klinger K, Taylor HA, Stevenson RE.
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| Cytogenet Cell Genet 56(3-4):152-3. 1991
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| 29 | 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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| 30 | GUSB
|
| Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog.
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| Haskins ME, Aguirre GD, Jezyk PF, Schuchman EH, Desnick RJ, Patterson DF.
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| Am J Pathol. 138(6):1553-5. 1991
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| 31 | GUSB
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| A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.
|
| Fagan K, Gill A, Henry R, Wilkinson I, Carey B.
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| J Med Genet 26(10):619-25. 1989
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| 32 | GUSB
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| Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.
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| Birkenmeier EH, Davisson MT, Beamer WG, Ganschow RE, Vogler CA, Gwynn B, Lyford KA, Maltais LM, Wawrzyniak CJ.
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| 83(4):1258-66. J Clin Invest. 1989
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| 33 | GUSB
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| Deletion mapping of the beta-glucuronidase gene.
|
| Allanson JE, Gemmill RM, Hecht BK, Johnsen S, Wenger DA.
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| Am J Med Genet 29(3):517-22. 1988
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| 34 | GUSB, PSPH
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| Refined mapping of phosphoserine phosphatase (PSP) and beta-glucuronidase (GUSB) on chromosome 7 by gene-dosage.
|
| Danesino C, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 603. 1987
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| 35 | GUSB
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| Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.
|
| Oshima A, Kyle JW, Miller RD, Hoffmann JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA.
|
| Proc Natl Acad Sci U S A. 84(3):685-9. 1987
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| 36 | GUSB
|
| Interstitial 7q deletion [46,XY, del (7) (pter->cen::q112->qter)] in a retarded quadriplegic boy with normal beta glucuronidase.
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| Frydman M, Steinberger J, Shabtai F, Steinherz R.
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| Am J Med Genet 25(2):245-9. 1986
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| 37 | GUSB, MPS7
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| Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis.
|
| 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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| 38 | GUSB
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| Assignment of the gene for beta-glucuronidase (beta-GUS) to chromosome 7 in man.
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| Lalley PA, et al.
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| Cytogenet Cell Genet 16 : 184-187. 1976
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| 39 | GUSB
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| Somatic cell hybrid assignment of a structural gene for human beta-glucuronidase to chromosome 7 by use of an X/7 translocation.
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| Chan TS, et al.
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| Cytogenet Cell Genet 17 : 291-295. 1976
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| 40 | GUSB
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| Assignment of the structural gene for human beta-glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule.
|
| Chern CJ, Croce CM.
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| Am J Hum Genet 28(4):350-6. 1976
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| 41 | GUSB
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| The human gene for beta-glucuronidase is on chromosome 7.
|
| Francke U.
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| Am J Hum Genet 28(4):357-62. 1976
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| 42 | AK1, ENO2, GUSB, IDH2
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| Assignment of human genes: beta-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mitochondrial IDH to 15.
|
| Grzeschik KH.
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| Cytogenet Cell Genet 16 : 142-148. 1976
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| 43 | GUSB, MPS7
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| Beta glucuronidase deficiency : report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
|
| Sly WS, Quinton BA, McAlister WH, Rimoin DL.
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| J Pediatr 82(2):249-57. 1973
|