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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Int J Mol Sci
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2019
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge