High prevalence of GAA c.[752C>T;761C>T] haplotype complicates high-risk screening for Pompe disease in the Chinese population

Post time 2026-8-17 02:08:13

journal：Molecular Genetics and Metabolism

Authors：Kexin Jiao; Yang Wang; Jueru Zhou; Bochen Zhu; Yiqi Wang; Qi Niu; Shanshan Mao; Yan Chen; Jialong Zhang; Xini Ma; Xinyu Chen; Chongbo Zhao; Shiwei Yang; Xiaohua Tang; Wenhua Zhu

Published date：2026-8-

DOI：10.1016/j.ymgme.2026.110187

PDF link：https://www.sciencedirect.com/sc ... 096719226004701/pdf

Article link：https://doi.org/10.1016/j.ymgme.2026.110187

Article Source：Elsevier BV。

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Post time 2026-8-17 02:08:14

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[Elsevier] High prevalence of GAA c.[752C>T;761C>T] haplotype complicates high-risk screening for Pompe disease in the Chinese population

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[Elsevier] High prevalence of GAA c.[752C>T;761C>T] haplotype complicates high-risk screening for Pompe disease in the Chinese population