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pro vyhledávání: '"T.S.Beltrán Jaramillo"'
Autor:
Sunji Thomatsu, T.S.Beltrán Jaramillo, Martha Patricia Gallegos-Arreola, L. Arnaud-López, Luis E. Figuera, Guillermo Moisés Zúñiga-González, Héctor Rangel-Villalobos
Publikováno v:
Annales de Génétique. 46:7-10
Background. – Mucopolysaccharidosis I (MPS-I) is an autosomal recessive disorder, which is caused by mutations in the IDUA gene. It induces the deficiency of glycosidase α-L-duronidase. The enzyme that is required for the degradation of heparan an