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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Indian J Med Res
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2015
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4683826/
https://ncbi.nlm.nih.gov/pubmed/26609033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-5916.169201
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados