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