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

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 chromo...

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Detalles Bibliográficos
Autores principales: Uttarilli, Anusha, Ranganath, Prajnya, Jain, S. Jamal Md Nurul, Krishna, Prasad C., Sinha, Anupam, Verma, Ishwar C., Phadke, Shubha R., Puri, Ratna D., Danda, Sumita, Muranjan, Mamta N., Jevalikar, Ganesh, Nagarajaram, H. A., Dalal, Ashwin B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683826/
https://www.ncbi.nlm.nih.gov/pubmed/26609033
http://dx.doi.org/10.4103/0971-5916.169201

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