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

• Үндсэн зохиолчид: Yu-jin Qu (Зохиогч), Juan Du (Зохиогч), Er-zhen Li (Зохиогч), Jin-li Bai (Зохиогч), Yu-wei Jin (Зохиогч), Hong Wang (Зохиогч), Fang Song (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2012-09-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...