Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Article ID	Journal	Published Year	Pages	File Type
5589882	Gene	2017	35 Pages	PDF

Keywords

LSD HGMD ARSB Arylsulfatase B Mucopolysaccharidoses lysosomal storage disorders Molecular analysis Novel mutation Dermatan sulfate MPs Pathogenic variant Genotype-phenotype correlation Functional characterization Human Gene Mutation Database

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Authors

Anusha Uttarilli, Divya Pasumarthi, Prajnya Ranganath, Ashwin B Dalal,