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pro vyhledávání: '"T. M. Bookina"'
Autor:
E. Yu Voskoboeva, T. M. Bookina, A. N. Semyachkina, S. V. Mikhaylova, N. D. Vashakmadze, G. V. Baydakova, E. Yu Zakharova, S. I. Kutsev
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2022)
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 no
Externí odkaz:
https://doaj.org/article/f8b01ae100a143058ab34fccabc7477d
