Current Aspects in the Molecular Genetics and Diagnostics of Spinal Muscular Atrophy
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene on 5q13. It leads to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The most frequent mutation is biallelic de...
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| Formato: | Libro |
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Elsevier,
2005-09-01T00:00:00Z.
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| Número de Clasificación: |
A1234.567 |
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