2019•Parkinsonism & Related DisordersRequires access

Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions

Yuchao Chen, Hao Qiang Yu, Rou‐Min Wang, Juan‐Juan Xie, Ni Wang, Yue Zhang, Yi Dong, Zhi‐Ying Wu

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Key concepts: Multiplex ligation-dependent probe amplification, Sanger sequencing, Genetics, Breakpoint, Biology, Compound heterozygosity, Copy-number variation, Mutation

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Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions — Research Paper | ScholarLens