A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease

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Bibliographic Details
Published in:Clinica chimica acta 2006-12, Vol.374 (1), p.145-146
Main Authors: Dou, Wei, Gu, Xuefan, Fu, Lijun, Peng, Chao, Zheng, Junke, Martiniuk, Frank, Sheng, Hui Z.
Format: Article
Language:English
Subjects:
alpha-Glucosidases - genetics
Base Sequence
Female
Glycogen Storage Disease Type II - diagnosis
Glycogen Storage Disease Type II - genetics
Humans
Infant
Molecular Sequence Data
Mutation, Missense
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ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2006.04.007