GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. [electronic resource]
Producer: 20210112Description: 1167-1176 p. digitalISSN:- 1552-4833
- Charcot-Marie-Tooth Disease -- genetics
- Child, Preschool
- Female
- Genetic Predisposition to Disease
- Glycine-tRNA Ligase -- genetics
- Humans
- Infant
- Infant, Newborn
- Male
- Muscular Atrophy, Spinal -- genetics
- Mutation, Missense -- genetics
- Phenotype
- Spinal Muscular Atrophies of Childhood -- diagnostic imaging
- Survival of Motor Neuron 1 Protein -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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