Article
A multiplex allele specific PCR capillary electrophoresis (mASPCR-CE) assay for simultaneously analysis of SMN1/SMN2/NAIP copy number and SMN1 loss-of-function variants.
Clinical chemistry and laboratory medicine - 25 Nov 2025
Lai Yunli, Yang Xu, Wei Shijie, Chen Yajun, Cai Yanjun, Wang Wenyu, Zhong Zeyan, Yang Xuexi, Zhou Wanjun
Abstract excerpt
OBJECTIVES: Spinal muscular atrophy (SMA) is a severe inherited neuromuscular disorder with a high carrier frequency and incidence rate. An accurate molecular method for SMA genes is crucial in carrier screening, clinical diagnosis, outcome assessment and precision therapies. METHODS: Comprehensively using the multiplex allele specific PCR (mASPCR) and capillary electrophoresis (CE), a novel single tube assay was...
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