| 1 | MPS3A, SGSH
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| The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
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| Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N.
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| Hum Mutat 29(5):770.
2008
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| 2 | MPS3A, SGSH
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| Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
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| Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T.
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| Hum Mutat 23(6):559-66. 2004
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| 3 | MPS3A, MPS3B, NAGLU, SGSH
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| Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
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| Yogalingam G, Hopwood JJ.
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| Hum Mutat 18(4):264-81. 2001
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| 4 | MPS3A, SGSH
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| Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
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| Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P.
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| Biochim Biophys Acta 1501(1):1-11. 2000
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| 5 | MPS3A, SGSH
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| Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
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| Beesley CE, Young EP, Vellodi A, Winchester BG.
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| J Med Genet 37(9):704-7. No abstract available. 2000
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| 6 | SGSH
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| Recombinant human sulphamidase: expression, amplification, purification and characterization.
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| Bielicki J, Hopwood JJ, Melville EL, Anson DS.
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| Biochem J 329 ( Pt 1):145-50. 1998
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| 7 | MPS3A, SGSH
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| Molecular defects in Sanfilippo syndrome type A.
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| Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ.
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| Hum Mol Genet 6(5):787-91. 1997
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| 8 | MPS3A, SGSH
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| Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
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| Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ.
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| Hum Mol Genet 6(9):1573-9. 1997
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| 9 | MPS3A, SGSH
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| Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
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| Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A.
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| Hum Mutat 10(6):479-85. 1997
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| 10 | SGSH
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| Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.
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| Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S.
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| Gene 200(1-2):149-56.
1997
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| 11 | SGSH
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| Structure and sequence of the human sulphamidase gene.
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| Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ.
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| DNA Res 3(4):269-71. 1996
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| 12 | SGSH
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| Structure and sequence of the human sulphamidase gene.
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| Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ.
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| DNA Res 3(4):269-71.
1996
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| 13 | SGSH, MPS3A
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| Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.
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| Scott HS, et al.
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| Nat Genet 11 : 465-467. 1995
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