Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development

Butchbach, MER

Butchbach, MER (corresponding author), Nemours Childrens Hlth Delaware, Ctr Appl Clin Genom, Wilmington, DE 19803 USA.; Butchbach, MER (corresponding author), Nemours Childrens Hlth Delaware, Ctr Pediat Res, Wilmington, DE 19803 USA.; Butchbach, MER (corresponding author), Univ Delaware, Dept Biol Sci, Newark, DE 19716 USA.; Butchbach, MER (corresponding author), Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021; 22 (15):

Abstract

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is characterized by loss of spinal motor neurons leading to mu......

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