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

Article

Abstract: Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in th

Palabras claves:

Bioinformatic model, Hurler, Mucopolysaccharidosis type I, Mutational analysis, Scheie, α-L-Iduronidase

Autores:

Acosta A., Barba M., Correa L.N., Corredor C., Escobar X., García A.L., Gonzalez J., Mansilla S., Marie S., Morales M., Ospina S., Pineda T., Protzel A., Ricardo Vivas, Velasco H.M.

Fuentes:

scopus