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

Spinal muscular atrophy (SMA) is a neuromuscular disease mainly caused by the absence of both copies of the survival motor neuron 1 (SMN1) gene. Multiple regions recommended population-wide SMA screening to quantify the copy number of SMN1. SMN1 diagnostic assays for the simplified procedure, high sensitivity, and throughput continue to be needed.

Source: Brain and Development - April 9, 2022 Category: Neurology Authors: Ying Xu, Tingting Song, Xiaozhou Wang, Jiao Zheng, Yu Li, Fenfen Guo, Yuanfeng Li, Zijian Guo, Yaling Dou, Yu Wang, Ye Zhao, Hong Yang Tags: Original article Source Type: research