Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

@article{Beesley2001MutationalAO,
  title={Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations},
  author={Clare E. Beesley and Cathy A. Meaney and Gavin Greenland and Vanessa Adams and Ashok Vellodi and Elisabeth P. Young and Bryan G. Winchester},
  journal={Human Genetics},
  year={2001},
  volume={109},
  pages={503-511}
}
The lysosomal storage disorder, mucopolysaccharidosis type I (MPS I), is caused by a deficiency of the enzyme α-L-iduronidase, which is involved in the breakdown of dermatan and heparan sulphates. There are three clinical phenotypes, ranging from the Hurler form characterised by skeletal abnormalities, hepatosplenomegaly and severe mental retardation, to the milder Scheie phenotype where there is aortic valve disease, corneal clouding, limited skeletal problems, but no mental retardation. In… CONTINUE READING

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The nature and mechanisms of human gene mutation

  • SE Antonarakis, M Krawczak, DN Cooper
  • 2001

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