Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons

Journal of Inherited Metabolic Disease

Volumn 19, Issue 1, 1996, Pages 93-94

  Li, P ^a   Thompson, J N ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; GENOME; HUMAN; HUNTER SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM;

EXONS; GENOME; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029883685     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799358     Document Type: Article

References (3)

1. Bach G, Eisenberg F, Cantz M, Neufeld EF (1973) The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci USA 70: 2134-2138.
2. Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995) Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. Am J Hum Genet 56: 597-607.
3. Wilson PJ, Meaney CA, Hopwood JJ, Morris CP (1993) Sequence of the human iduronate-2-sulfatase (IDS) gene. Genomics 17: 773-775.