Subtle mutations in the <it>SMN1</it> gene in Chinese patients with SMA: p.Arg288Met mutation causing <it>SMN1</it> transcript exclusion of exon7

• Main Authors: Yu-jin Qu (Author), Juan Du (Author), Er-zhen Li (Author), Jin-li Bai (Author), Yu-wei Jin (Author), Hong Wang (Author), Fang Song (Author)
• Format: Book
• Published: BMC, 2012-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...