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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Detalles Bibliográficos
Autores principales: Malekpour, Nasrin, Vakili, Rahim, Hamzehloie, Tayebeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272068/
https://www.ncbi.nlm.nih.gov/pubmed/30524696
http://dx.doi.org/10.22038/IJBMS.2018.27742.6760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272068/
https://www.ncbi.nlm.nih.gov/pubmed/30524696
http://dx.doi.org/10.22038/IJBMS.2018.27742.6760

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