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

@article{Scott2004PCRDO,
  title={PCR detection of two RFLPs in exon I of the $\alpha$-L-iduronidase (IDUA) gene},
  author={Hamish S. Scott and Tom Litjens and J. J. Hop wood and Charles Phillip Morris},
  journal={Human Genetics},
  year={2004},
  volume={90},
  pages={327}
}
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. 
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants
TLDR
This study evaluated 586 variants obtained from the literature review, five population databases, in addition to dbSNP, Human Genome Mutation Database (HGMD), and ClinVar, finding 122 variants had total consensus among the five predictors, with 57 classified as predicted deleterious and 65 as predicted neutral.

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