Subtle mutations in the <it>SMN1</it> gene in Chinese patients with SMA: p.Arg288Met mutation causing <it>SMN1</it> transcript exclusion of exon7
<p>Abstract</p> <p>Background</p> <p>Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81 ~ 95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (<it>SMN1</it&g...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2012-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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