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Article

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.

Neuromuscular disorders : NMD - 1 Mar 2020

Xu Yan, Xiao Bing, Liu Yu, Qu Xiao-Xing, Dai Meng-Yao, Ying Xiao-Min, Jiang Wen-Ting, Zhang Jing-Min, Liu Xiao-Qing, Chen Ying-Wei, Ji Xing

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by homozygous deletions of the SMN1 gene in approximately 95% of patients. The remaining 5% of patients with SMA retain at least one copy of the SMN1 gene carrying insertions, deletions, or point mutations. Although molecular genetic testing for most SMA patients is quite easy, diagnosing "nondeletion" SMA patients is still compromised by the presence of a highly homologous...

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Identifiers

PMID: 32169315
DOI: 10.1016/j.nmd.2019.11.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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