A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I

Authors :: Yujue, Li
Xueyang, Tang
Yang, Meng
Guojing, Luo
Xijie, Yu
Source :: Journal of genetics. 98
Publication Year :: 2019
Abstract: Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in alpha-L-iduronidase (

Subjects :: Male
Iduronidase
Asian People
Protein Domains
Codon, Nonsense
Child, Preschool
Mucopolysaccharidosis I
Mutation, Missense
High-Throughput Nucleotide Sequencing
Humans
Exons
Child
Protein Structure, Tertiary

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