A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy

Pompe disease is an autosomal recessive disorder resulting from a deficiency of acid α-glucosidase (GAA). It is uncommon in the mainland of China, due to rare mutations in the GAA gene. The aim of this work was to elucidate the causative role of a novel compound heterozygous mutation of juvenile ons...

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Publicado no:Int J Clin Exp Pathol
Main Authors: Xu, Lingling, Zhang, Lidan, Zhong, Liangying, Huang, Xueqiong, Li, Suping, Cheng, Yucai, Liang, Yujian, Pei, Yuxin, Huang, Huimin, Tang, Wen, Zhang, Cheng
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2017
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6966062/
https://ncbi.nlm.nih.gov/pubmed/31966564
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