【摘 要】
：
Spinal muscular atrophy (SMA), the most frequent human congenital motor neuron degenerative disease, is caused by loss-of-function mutations in the highly conserved survival motor neuron gene SMN1.Mut
【机 构】
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State Key Laboratory of Medical Genetics,School of Life Sciences,Central South University,Changsha,H
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
Spinal muscular atrophy (SMA), the most frequent human congenital motor neuron degenerative disease, is caused by loss-of-function mutations in the highly conserved survival motor neuron gene SMN1.Mutations in SMN could affect several molecular processes, among which aberrant pre-mRNA splicing caused by defective snRNP biogenesis is hypothesized as a major cause of SMA.
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