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Article

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

The Indian journal of medical research - 1 Oct 2015

Uttarilli Anusha, Ranganath Prajnya, Jain S Jamal Md Nurul, Prasad C Krishna, Sinha Anupam, Verma Ishwar C, Phadke Shubha R, Puri Ratna D, Danda Sumita, Muranjan Mamta N, Jevalikar Ganesh, Nagarajaram H A, Dalal Ashwin B

Abstract excerpt

BACKGROUND & OBJECTIVES: Mucopolysaccharidosis type VI (MPS VI) is a rare, autosomal recessive lysosomal storage disorder caused by deficient enzymatic activity of N-acetyl galactosamine-4-sulphatase resulting from mutations in the arylsulphatase B (ARSB) gene. The ARSB gene is located on chromosome 5q11-q13 and is composed of eight exons. More than hundred ARSB mutations have been reported so far, but the...

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Identifiers

PMID: 26609033
DOI: 10.4103/0971-5916.169201
PMCID: PMC4683826

Genes

ARSB

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