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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Principais autores:	Nasrin Malekpour, Rahim Vakili, Tayebeh Hamzehloie
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Mashhad University of Medical Sciences 2018-09-01
Colecção:	Iranian Journal of Basic Medical Sciences
Assuntos:	ARSB gene Arylsulfatase B Consanguineous marriage DNA sequencing Maroteaux-Lamy syndrome Mucopolysaccharidosis VI (MPS VI)
Acesso em linha:	http://ijbms.mums.ac.ir/article_11251_92da38c0dc480568787e925f69546db3.pdf
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