A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease

Journal of Inherited Metabolic Disease

Volumn 22, Issue 7, 1999, Pages 844-

  Gort, L ^a   Chabas A ^a   Coll, M J ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; FETUS; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; HUNTER SYNDROME; MALE; PRENATAL DIAGNOSIS;

EID: 0344500849     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005570410851     Document Type: Article

References (3)

1. Gort L, Chabás A, Coll MJ (1998) Hunter disease in the Spanish population: molecular analysis in 31 families. J Inher Metab Dis 21: 655-661.
2. Li P, Huffman P, Thompson JN (1995) Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. Hum Mutat 5: 272-274.
3. Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease 7th edn. New York: McGraw-Hill, vol. II, 2465-2494.