Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru

Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru

Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme α-l-iduronidase (IDUA), which is instrumental in the hydrolysis of the glycosaminoglycans, dermatan and heparan sulfate. The accumulation of unhydrolyzed glycosami...

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Bibliographic Details
Main Authors: Tatiana Pineda, Sulie Marie, Janneth Gonzalez, Ana L. García, Amparo Acosta, Manuel Morales, Luz N. Correa, Ricardo Vivas, Xiomara Escobar, Ana Protzel, Maria Barba, Sandra Ospina, Clara Corredor, Sandra Mansilla, Harvy M. Velasco
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis type I
α-l-Iduronidase
Hurler
Scheie
Mutational analysis
Bioinformatic model
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000664

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http://www.sciencedirect.com/science/article/pii/S2214426914000664

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