Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e...

Source: BMC Medical Genetics - June 18, 2020 Category: Genetics & Stem Cells Authors: Yingjie Sun, Xiangdong Kong, Zhenhua Zhao and Xuechao Zhao Tags: Research article Source Type: research