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

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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Bibliographic Details
Main Authors: Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban
Format: Article
Language:English
Published: Wolters Kluwer 2018-01-01
Series:Chinese Medical Journal
Subjects:
Alpha-glucosidase; DNA Mutational Analysis; Genetic Heterogeneity; Glycogen Storage Disease Type II
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=4;spage=448;epage=453;aulast=Liu

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http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=4;spage=448;epage=453;aulast=Liu

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