Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.

Jafaryazdi, Rokhsareh; Shams, Sedigheh; Isaian, Anna; Setoodeh, Aria; Teimourian, Shahram

Jafaryazdi, Rokhsareh; Shams, Sedigheh; Isaian, Anna; Setoodeh, Aria; Teimourian, Shahram.

Afiliação

Jafaryazdi R; Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences, Crossroads of Shahid Hemmat & Shahid Chamran Highways, P.O. Box 15875-6171, Tehran, 1449614535, Iran.
Shams S; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Isaian A; Department of Pathology, Tehran University of Medical Sciences, Tehran, Iran.
Setoodeh A; Pediatric Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Teimourian S; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

Mol Biol Rep ; 46(3): 3417-3426, 2019 Jun.

Article em En | MEDLINE | ID: mdl-30982216

Assuntos

Mucopolissacaridose VI/genética; Mutação; N-Acetilgalactosamina-4-Sulfatase/genética; Criança; Pré-Escolar; DNA/genética; Análise Mutacional de DNA; Éxons; Feminino; Estudos de Associação Genética; Testes Genéticos; Variação Genética/genética; Humanos; Lactente; Irã (Geográfico); Masculino; Mucopolissacaridose VI/enzimologia; Mucopolissacaridose VI/metabolismo; N-Acetilgalactosamina-4-Sulfatase/metabolismo; Linhagem; Polimorfismo Genético/genética

Palavras-chave

Arylsulfatase B; In silico; Iran; MPS VI; Sanger sequencing; Variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose VI / N-Acetilgalactosamina-4-Sulfatase / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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