Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

BACKGROUND: Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a rare disease inherited in an X-linked autosomal recessive pattern. It is the prevailing form of the mucopolysaccharidoses in China. Here we investigated mutations of IDS (iduronate 2-sulfatase) gene in 38 unrelated Chinese pati...

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Detalles Bibliográficos
Autores principales: Zhang, Huiwen, Li, Jing, Zhang, Xinshun, Wang, Yu, Qiu, Wenjuan, Ye, Jun, Han, Lianshu, Gao, Xiaolan, Gu, Xuefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150403/
https://www.ncbi.nlm.nih.gov/pubmed/21829674
http://dx.doi.org/10.1371/journal.pone.0022951

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150403/
https://www.ncbi.nlm.nih.gov/pubmed/21829674
http://dx.doi.org/10.1371/journal.pone.0022951

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