Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology
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DOI: 10.3389/fmolb.2021.783644
Abstract: Mutations in the IDUA gene cause deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), which leads to a rare disease known as mucopolysaccharidosis type I. More than 300 pathogenic variants of the IDUA gene have been… read more here.
Keywords: epidemiology; soviet union; mucopolysaccharidosis type; republics former ... See more keywords