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C.640-814T>c Mutation in Deep Intronic Region of Alpha-Galactosidase A Gene is Associated with Fabry Disease Via Dominant-Negative Effect

Piyi Zhang,Yongxiang Wang,Gaxue Jiang, Yiming Zhang,Yonglin Chen,Yu Peng,Zixian Chen,Ming Bai

GENE（2025）

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Key words
Deep intronic mutation,Fabry disease,Cardiomyopathy,Alternative splicing,Dominant-negative effect
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