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Hum Genet. 1992 Nov;90(3):327.

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.

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  • 1Department of Chemical Pathology, Adelaide Children's Hospital, Australia.

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.

PMID:
1362562
[PubMed - indexed for MEDLINE]
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