Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is an inherited autosomal recessive disease resulting from mutation of the α-l-Iduronidase (IDUA) gene. New unknown mutated nucleotides of idua have increasingly been discovered in newborn screening, and remain to be elucidated. In this study, we found that the z...

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Detalles Bibliográficos
Autores principales: Lin, Cheng-Yung, Lin, Hsiang-Yu, Chuang, Chih-Kuang, Zhang, Po-Hsiang, Tu, Yuan-Rong, Lin, Shuan-Pei, Tsai, Huai-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332586/
https://www.ncbi.nlm.nih.gov/pubmed/35893292
http://dx.doi.org/10.3390/jpm12081199

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