Mutations in ARSB in MPS VI patients in India

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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Bibliographic Details
Main Authors: Juby Mathew, Sujatha M. Jagadeesh, Meenakshi Bhat, S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Sudha Srinivasan
Format: Article
Language:English
Published: Elsevier 2015-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis VI (MPS VI)
Maroteaux–Lamy syndrome
Arylsulfatase B (ARSB)
Inborn error of metabolism (IEM)
Lysosomal storage disorder (LSD)
Lysosomal enzyme
Mutations
India
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