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

H. S. Scott; T. Litjens; J. J. Hop wood; C. P. Morris

doi:10.1007/BF00220095

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

H. S. Scott
, T. Litjens
, J. J. Hop wood
, C. P. Morris

Hopwood Centre For Neurobiology

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

Two polymorphisms were detected within exon I of the a-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.

Original language	English
Pages (from-to)	327
Number of pages	1
Journal	Human Genetics
Volume	90
Issue number	3
DOIs	https://doi.org/10.1007/BF00220095
Publication status	Published or Issued - Nov 1992

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/BF00220095

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title = "PCR detection of two RFLPs in exon I of the α-L-iduronidase (IDUA) gene",

abstract = "Two polymorphisms were detected within exon I of the a-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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AU - Scott, H. S.

AU - Litjens, T.

AU - Hop wood, J. J.

AU - Morris, C. P.

PY - 1992/11

Y1 - 1992/11

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AB - Two polymorphisms were detected within exon I of the a-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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DO - 10.1007/BF00220095

M3 - Article

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JO - Human Genetics

JF - Human Genetics

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ER -

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

Abstract

ASJC Scopus subject areas

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