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Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

Hunter syndrome (mucopolysaccharidosis II; MPS II) is caused by a defect of the iduronate-2-sulfatase (IDS) gene. Few studies have reported integrated mutation data of Taiwanese MPS II phenotypes. In this study, we summarized genotype and phenotype correlations of confirmed MPS II patients and asymp...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Lin, Hsiang-Yu, Tu, Ru-Yi, Chern, Schu-Rern, Lo, Yun-Ting, Fran, Sisca, Wei, Fang-Jie, Huang, Sung-Fa, Tsai, Shin-Yu, Chang, Ya-Hui, Lee, Chung-Lin, Lin, Shuan-Pei, Chuang, Chih-Kuang
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6982257/
https://ncbi.nlm.nih.gov/pubmed/31877959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21010114
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