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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-09-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://www.biomedcentral.com/1471-2350/13/86 |