Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing

Ying Xu,Tingting Song,Xiaozhou Wang,Jiao Zheng,Yu Li,Fenfen Guo,Yuanfeng Li,Zijian Guo,Yaling Dou,Yu Wang,Ye Zhao,Hong Yang

Brain and Development（2022）

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摘要

The real-time PCR based on high-resolution melting provides a sensitive and high-throughput approach to large-scale SMA carrier screening with low cost and labor.

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关键词

Spinal muscular atrophy,SMN1,High-resolution melting,Carrier screening

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