Mucopolysaccharidosis type I: Characterization of novel mutations affecting α-L-iduronidase activity

Clinical Genetics

Volumn 56, Issue 1, 1999, Pages 66-70

  Lee Chen, G J ^a   Lin, S P ^b   Tang, Y F ^a   Chin, Y W ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

L iduronidase; MPS I; Novel mutations

Indexed keywords

CYCLOHEXIMIDE; DACTINOMYCIN; LEVO IDURONIDASE; MESSENGER RNA;

ANIMAL CELL; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HURLER SYNDROME; NONHUMAN; PRIORITY JOURNAL; PROTEIN SYNTHESIS INHIBITION; RNA SYNTHESIS; SCHEIE SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; CATALYSIS; COS CELLS; DNA, COMPLEMENTARY; ENZYME STABILITY; HUMANS; IDURONIDASE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS I; MUTATION; RNA, MESSENGER;

ANIMALIA;

EID: 0032872959     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560109.x     Document Type: Article

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