[Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].

Jing Li,Yuling Zhu,Yixin Zhan,Yaqin Li,Menglong Chen,Liang Wang,Ruojie He,Cheng Zhang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2017）

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摘要

Homozygous deletion of the SMN1 gene have been detected in more than 95% of SMA patients. No homozygous deletion of exon 8 has been found. Homozygous deletion of exon 7 is more significant in the pathogenesis of SMA.

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关键词

Spinal muscular atrophy,SMN1 gene,Multiplex ligation dependent probe amplification

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