Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

BACKGROUND: Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe...

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Detalles Bibliográficos
Autores principales: Liu, Xiao, Wang, Zhaoxia, Jin, Weina, Lv, He, Zhang, Wei, Que, Chengli, Huang, Yu, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411720/
https://www.ncbi.nlm.nih.gov/pubmed/25526786
http://dx.doi.org/10.1186/s12881-014-0141-2

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