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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Detalles Bibliográficos
Autores principales: Pineda, Tatiana, Marie, Sulie, Gonzalez, Janneth, García, Ana L., Acosta, Amparo, Morales, Manuel, Correa, Luz N., Vivas, Ricardo, Escobar, Xiomara, Protzel, Ana, Barba, Maria, Ospina, Sandra, Corredor, Clara, Mansilla, Sandra, Velasco, Harvy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
The Lysosome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121354/
https://www.ncbi.nlm.nih.gov/pubmed/27896125
http://dx.doi.org/10.1016/j.ymgmr.2014.10.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121354/
https://www.ncbi.nlm.nih.gov/pubmed/27896125
http://dx.doi.org/10.1016/j.ymgmr.2014.10.001

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