The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese

Chinese Journal of Medical Genetics

Volumn 19, Issue 3, 2002, Pages 243-245

  Liu, Shangfeng ^a   Li, Luyun ^a   Fu, Junjiang ^a   Zhong, Changgao ^a   Lu, Guangxiu ^a  

^a Central South University   (China)

Author keywords

Mucopolysaccharidosis type I; Mutation detection; Polymerase chain reaction single strand conformation polymorphism

Indexed keywords

AMINO ACIDS; CONFORMATIONS; DIAGNOSIS; DNA SEQUENCES; ENZYMES; MUTAGENESIS; POLYSACCHARIDES;

PATIENTS;

GENES;

IDURONATE 2 SULFATASE;

AMINO ACID SUBSTITUTION; ANALYTIC METHOD; ARTICLE; DIAGNOSTIC ACCURACY; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; MUCOPOLYSACCHARIDOSIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHINA; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0036277932     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Mucopolysaccharidosis type I (Hunter syndrome): Mutation "hot spots" in the iduronate-2-sulphatase gene
2. Hunter syndrome isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
3. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing
4. Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type I) confirmed by in vitro mutagenesis and expression