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Wen-hui Zhang
Wen-hui Zhang
Boston Children's Hospital
Genetics
Biology
Spinal muscular atrophy
SMN1
Molecular biology
4
Papers
32
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Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing
2018
Chinese Medical Journal
Yan-yan Cao
Wen-hui Zhang
Yu-jin Qu
Jin-li Bai
Yu-wei Jin
Hong Wang
Fang Song
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Citations (5)
X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
2016
Molecular Medicine Reports
Jin-li Bai
Yu-jin Qu
Yan-yan Cao
Yan Li
Wen-hui Zhang
Yu-wei Jin
Hong Wang
Fang Song
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Citations (1)
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy
2016
The Journal of Molecular Diagnostics
Yu-jin Qu
Jin-li Bai
Yan-yan Cao
Hong Wang
Yu-wei Jin
Juan Du
Xiu-shan Ge
Wen-hui Zhang
Yan Li
Sheng-xi He
Fang Song
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Citations (15)
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.
2016
European Journal of Human Genetics
Yu-jin Qu
Jin-li Bai
Yan-yan Cao
Wen-hui Zhang
Hong Wang
Yu-wei Jin
Fang Song
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Citations (11)
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