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Mutations in ARSB in MPS VI patients in India

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive inborn error of metabolism caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme. We present here the results of a study undertaken to identify the mutations in ARSB in MPS VI p...

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Detalles Bibliográficos
Autores principales: Mathew, Juby, Jagadeesh, Sujatha M., Bhat, Meenakshi, Udhaya Kumar, S., Thiyagarajan, Saravanamuthu, Srinivasan, Sudha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750586/
https://www.ncbi.nlm.nih.gov/pubmed/26937411
http://dx.doi.org/10.1016/j.ymgmr.2015.06.002