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Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
OBJECTIVE(S): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminog...
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| Publicado no: | Iran J Basic Med Sci |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Mashhad University of Medical Sciences
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6272068/ https://ncbi.nlm.nih.gov/pubmed/30524696 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22038/IJBMS.2018.27742.6760 |
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