Characterization of a novel p.S305P and a known c.1006 +5G > C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II

Clinica Chimica Acta

Volumn 384, Issue 1-2, 2007, Pages 167-170

  Chang, Jui Hung ^a   Lin, Shuan Pei ^b,c,d   Chuang, Chih Kuang ^b   Lee Chen, Guey Jen ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^d NATIONAL TAIPEI UNIVERSITY OF NURSING AND HEALTH SCIENCES   (Taiwan)

Author keywords

Donor splice site; Genotype molecular phenotype correlation; Iduronate 2 sulfatase; Mucopolysaccharidosis type II; Novel mutation

Indexed keywords

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

BETA THALASSEMIA; CELL STRAIN COS7; ENZYME ACTIVITY; GENE ACTIVITY; GENE MUTATION; GLYCOSYLATION; HUMAN; HUNTER SYNDROME; INTRON; LETTER; MOUSE STRAIN; NONHUMAN; POINT MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; SITE DIRECTED MUTAGENESIS; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; GLYCOPROTEINS; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; RNA SPLICE SITES; TAIWAN;

EID: 34547895961     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.06.014     Document Type: Letter

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