Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

BACKGROUND: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim o...

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Detalles Bibliográficos
Autores principales: Liu, Hua-Xu, Pu, Chuan-Qiang, Shi, Qiang, Zhang, Yu-Tong, Ban, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830830/
https://www.ncbi.nlm.nih.gov/pubmed/29451150
http://dx.doi.org/10.4103/0366-6999.225056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830830/
https://www.ncbi.nlm.nih.gov/pubmed/29451150
http://dx.doi.org/10.4103/0366-6999.225056

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