Molecular analysis in 23 Hunter disease families

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 453-456

  Lissens, W ^a   Seneca, S ^a   Liebaers, I ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DERMATAN SULFATE; HEPARAN SULFATE; IDURONATE 2 SULFATASE;

BIOACCUMULATION; CLINICAL ARTICLE; CONFERENCE PAPER; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE MUTATION; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC ANALYSIS; HUMAN; HUNTER SYNDROME; MOLECULAR BIOLOGY; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030747375     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005335624386     Document Type: Conference Paper

References (8)

1. Decaluwe J, Lissens W, Chabas A, et al (1992) Molecular study of patients with Hunter syndrome, and their families. Abstracts of Free Communications, SSIEM 30th Annual Symposium, Leuven, Belgium: P192.
2. Flomen RH, Green EP, Green PM, Bentley DR, Giannelli F (1993) Determination of the organisation of the coding sequences within the iduronate sulphate sulphatase (IDS) gene. Hum Mol Genet 2: 5-10.
3. Hopwood JJ, Bunge S, Morris CP, et al (1993) Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat 2: 435-442.
4. Lissens W, De Meirleir L, Seneca S, et al (1996) Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 7: 46-51.
5. Lu F, Lu J, Clingan RL, et al (1994) Complete DNA sequence of the human iduronate sulphate sulphatase (IDS) locus. GenBank, accesion number L35485.
6. Sukegawa K, Tomatsu S, Fukao T, et al (1995) Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. Hum Mutat 6: 136-143.
7. Wilson PJ, Morris CP, Anson DS, et al (1990) Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 87: 8531-8535.
8. Wilson PJ, Meaney CA, Hopwood JJ, Morris CP (1993) Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics 17: 773-775.