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

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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Bibliographic Details
Main Authors: E. Yu Voskoboeva, T. M. Bookina, A. N. Semyachkina, S. V. Mikhaylova, N. D. Vashakmadze, G. V. Baydakova, E. Yu Zakharova, S. I. Kutsev
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Molecular Biosciences
Subjects:
mucopolysaccharidosis I
IDUA gene
genotype-phenotype
iduronidase
Russian Federation
Hurler
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2021.783644/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2021.783644/full

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