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  • Title: PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.
    Author: Scott HS, Litjens T, Hopwood JJ, Morris CP.
    Journal: Hum Genet; 1992 Nov; 90(3):327. PubMed ID: 1362562.
    Abstract:
    Two polymorphisms were detected within exon I of the alpha-L-iduronidase (IDUA) gene both of which create restriction endonuclease sites and one of which changes an amino acid. The polymorphisms may be detected by digesting the same 245-bp polymerase chain reaction product. The polymorphisms can be used diagnostically in families with IDUA deficiency (mucopolysaccharidosis type I) and Huntington disease, which is closely linked to the IDUA locus.
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