A multiplex allele specific PCR capillary electrophoresis (mASPCR-CE) assay for simultaneously analysis of <i>SMN1/SMN2</i> / <i>NAIP</i> copy number and <i>SMN1</i> loss-of-function variants
This mASPCR-CE assay is easy to use and cost-effective, making it suitable for routine use in molecular screening and clinical diagnosis of SMA.
Authors
- Zeyan Zhong
- Yajun Chen (ORCID: https://orcid.org/0000-0002-1832-5503)
- Yanjun Cai (ORCID: https://orcid.org/0000-0001-7063-5050)
- Shuyi Wei (ORCID: https://orcid.org/0000-0002-1855-9684)
- Yunli Lai
- Xuexi Yang (ORCID: https://orcid.org/0000-0002-3513-6501)
- Wanjun Zhou (ORCID: https://orcid.org/0000-0002-0760-9041)
- Wenyu Wang (ORCID: https://orcid.org/0000-0003-2816-9740)
- Yang Xu (ORCID: https://orcid.org/0000-0001-5574-921X)
Institutions
- Shaoguan University (CN)
- Third Affiliated Hospital of Southern Medical University (CN)
- General Hospital of Guangzhou Military Command (CN)
- Guangxi Maternal and Child Health Hospital (CN)
- Shaoguan Railway Hospital (CN)
- Huizhou Central People's Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Clinical Chemistry and Laboratory Medicine (CCLM)
- Published
- 2025-08-18
- DOI
- https://doi.org/10.1515/cclm-2025-0175
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Basic and Applied Basic Research Foundation of Guangdong Province