DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression

Human Mutation

Volumn 11, Issue 2, 1998, Pages 121-126

  Timms, Kirsten M ^a   Huckett, Louise E ^a   Belmont, John W ^a   Shapira, Stuart K ^a   Gibbs, Richard A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

DNA deletion; Hunter syndrome; IDS

Indexed keywords

DNA TOPOISOMERASE (ATP HYDROLYSING); IDURONATE 2 SULFATASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; HUMAN; HUNTER SYNDROME; LYSOSOME STORAGE DISEASE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; HUMANS; IDURONATE SULFATASE; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; PEDIGREE; PHENOTYPE; PROMOTER REGIONS (GENETICS); SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 0031906482     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M     Document Type: Article

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