Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients

@article{Petry2005MucopolysaccharidosisTV,
  title={Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients},
  author={M{\'a}rcia Fernanda Gomes Petry and K. Nonemacher and Juliana Ca{\~n}edo Sebben and Ida Vanessa D Schwartz and Ana Cecilia Mano Azevedo and Maira Graeff Burin and A. R. De Rezende and Chong A E Kim and Ricardo Giugliani and Sandra Leistner-Segal},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={1027-1034}
}
Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-4-sulphatase (ARSB),which leads to the lysosomal accumulation and excretion of dermatan sulphate (DS). In this study, 13 unrelated MPS VI patients (12 Brazilian and 1 Chilean) were investigated regarding the identification of the ARSB gene mutations using PCR, SSCP and sequencing. The exons with altered mobility on SSCP were sequenced, as well as all… CONTINUE READING

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