Mutational analysis of <i>ARSB</i> gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.

Malekpour, Nasrin; Vakili, Rahim; Hamzehloie, Tayebeh

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

Malekpour, Nasrin; Vakili, Rahim; Hamzehloie, Tayebeh.

Afiliação

Malekpour N; Department of Human Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Vakili R; Division of Endocrinology and Metabolism, Department of Pediatrics, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Hamzehloie T; Department of Human Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Iran J Basic Med Sci ; 21(9): 950-956, 2018 Sep.

Article em En | MEDLINE | ID: mdl-30524696

Palavras-chave

ARSB gene; Arylsulfatase B; Consanguineous marriage DNA sequencing; Maroteaux-Lamy syndrome; Mucopolysaccharidosis VI (MPS VI)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo

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PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article