Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

Human Mutation

Volumn 10, Issue 1, 1997, Pages 71-75

  Villani, Guglielmo R D ^a   Balzano, Nicola ^a   Grosso, Michela ^a   Salvatore, Francesco ^a   Izzo, Paola ^a   Natale, Paola Di ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA DETERMINATION; FIBROBLAST; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; HUNTER SYNDROME; ITALY; LYMPHOBLAST; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

BLOTTING, SOUTHERN; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; HUMANS; IDURONATE SULFATASE; ITALY; MUCOPOLYSACCHARIDOSIS II; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030754096     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:1<71::AID-HUMU10>3.0.CO;2-X     Document Type: Article

References (12)

1. Annella T, Daniele A, Di Natale P (1993) Heterogeneity of DNA and RNA in Hunter patients. Hum Genet 92:350-352.
2. Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D (1994) Mutation analysis of Jewish Hunter patients in Israel. Hum Mutat 4:263-270.
3. Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC (1991) Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. Am J Hum Genet 48:137-144.
4. Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A (1993) Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 2:1871-1875.
5. Cooper DN, Krawczak M (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions. Hum Genet 85:55-74.
6. Coppa GV, Gabrielli O, Zampini L, Jetzequel AM, Miniero R, Busca A, De Luca T, Di Natale P (1995) Bone marrow transplantation in Hunter syndrome. J Inner Metab Dis 18:91-92.
7. Crotty PL, Braun SE, Anderson RA, Whitley CB (1992) Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. Hum Mol Genet 1:755-757.
8. Daniele A, Di Natale P (1995) Expression of the two iduronate-2-sulfatase cDNAs. Biochem Mol Biol Internat 36:311-317.
9. Daniele A, Faust CJ, Herman GE, Di Natale P, Ballabio A (1993) Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Genomics 16:755-757.
10. Daniele A, Russo T, Ballabio A, Di Natale P (1993) The mouse iduronate sulfatase gene: Identification of a novel transcript. Biochem Biophys Res Commun 194:1030-1037.
11. Flomen RH, Green EP, Green PM, Bentley DR, Giannelli F (1993) Determination of the organization of coding sequences within the iduronate sulphate sulphatase (IDS) gene. Hum Mol Genet 2:5-10.
12. Grosso M, Balzano N, Rippa E, Villani GRD, Salvatore F, Izzo P, Di Natale P (1995) Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease. Biochem Mol Biol Internat 35:1261-1267.