No abstract available
MeSH terms
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Chromosomes, Human, Pair 5 / genetics
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Consanguinity
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Fatal Outcome
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Female
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Humans
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Infant
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Muscular Atrophy / genetics
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Mutation
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Spinal Muscular Atrophies of Childhood / diagnosis*
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Spinal Muscular Atrophies of Childhood / genetics*
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Survival of Motor Neuron 1 Protein / genetics
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Survival of Motor Neuron 2 Protein / genetics
Substances
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SMN1 protein, human
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SMN2 protein, human
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Survival of Motor Neuron 1 Protein
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Survival of Motor Neuron 2 Protein