Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology

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 reported to date, but not much is known about the distribution of mutation...

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Detalles Bibliográficos
Autores principales: Voskoboeva, E. Yu, Bookina, T. M., Semyachkina, A. N., Mikhaylova, S. V., Vashakmadze, N. D., Baydakova, G. V., Zakharova, E. Yu, Kutsev, S. I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819008/
https://www.ncbi.nlm.nih.gov/pubmed/35141277
http://dx.doi.org/10.3389/fmolb.2021.783644

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