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Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy

โœ Scribed by He, Jin; Zhang, Qi-Jie; Lin, Qi-Fang; Chen, Ya-Fang; Lin, Xiao-Zhen; Lin, Min-Ting; Murong, Shen-Xing; Wang, Ning; Chen, Wan-Jin


Book ID
120490803
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
903 KB
Volume
518
Category
Article
ISSN
0378-1119

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## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter