Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients

Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB).  The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosamino...

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Bibliographic Details
Main Authors: Nasrin Malekpour, Rahim Vakili, Tayebeh Hamzehloie
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2018-09-01
Series:Iranian Journal of Basic Medical Sciences
Subjects:
ARSB gene
Arylsulfatase B
Consanguineous marriage
DNA sequencing
Maroteaux-Lamy syndrome
Mucopolysaccharidosis VI (MPS VI)
Online Access:http://ijbms.mums.ac.ir/article_11251_92da38c0dc480568787e925f69546db3.pdf

Internet

http://ijbms.mums.ac.ir/article_11251_92da38c0dc480568787e925f69546db3.pdf

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