Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Clinical Genetics

Volumn 61, Issue 3, 2002, Pages 192-197

  Lee Chen, G J ^a   Lin, S P ^b   Ko, M H ^a   Chuang, C K ^b   Chen, C P ^a   Lee, H H ^a   Cheng, S C ^a   Shen, C H ^a   Tseng, K L ^a   Li, C L ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Haparan N sulphatase; MPS IIIA; Mutations; Polymorphisms

Indexed keywords

COMPLEMENTARY DNA; ENZYME PRECURSOR; GENOMIC DNA; HEPARAN SULFATE; LYSOSOME ENZYME;

ADOLESCENT; ARTICLE; CASE REPORT; CELL STRAIN COS7; CHINESE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEGRADATION; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETIC TRANSFECTION; HAPLOTYPE; HUMAN; MUTAGENICITY; MUTANT; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SCHOOL CHILD; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; ANIMALS; CHILD; COS CELLS; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MUCOPOLYSACCHARIDOSIS III; MUTATION; POLYMORPHISM, GENETIC; SULFATASES; TRANSFECTION;

EID: 0036524324     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610304.x     Document Type: Article

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