Mucopolysaccharidosis type I: Identification and characterization of mutations affecting α-L-iduronidase activity

Journal of the Formosan Medical Association

Volumn 101, Issue 6, 2002, Pages 425-428

  Lee Chen, Guey Jen ^a   Lin, Shuan Pei ^a   Chen, I Shen ^a   Chang, Jui Hung ^a   Yang, Chyau Wen ^a   Chin, Yi Wen ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

Author keywords

Alpha L iduronidase mutation characterization; MPS 1

Indexed keywords

CYTOSINE; GUANINE; LEVO IDURONIDASE; MESSENGER RNA; MUTANT PROTEIN; PROTEIN PRECURSOR; SIGNAL PEPTIDE; THYMINE;

ADOLESCENT; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEGRADATION; ENZYME POLYMORPHISM; EXON; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSFECTION; HUMAN; HURLER SYNDROME; MOLECULAR WEIGHT; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN PROCESSING; SCHEIE SYNDROME; TAIWAN; WESTERN BLOTTING;

ADOLESCENT; CHILD; HUMANS; IDURONIDASE; MUCOPOLYSACCHARIDOSIS I; MUTATION;

EID: 0036348096     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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