A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).
Tieu
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PT
Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024-1737.
Menon
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K
Neufeld
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EF
D001483:Base Sequence; D002460:Cell Line; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis
D003062:Codon; D017931:DNA Primers; D012333:RNA, Messenger; D007068:Iduronidase