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Article

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.

Clinical chemistry and laboratory medicine - 1 Mar 2017

Li Liang, Zhou Wan-Jun, Fang Ping, Zhong Ze-Yan, Xie Jian-Sheng, Yan Ti-Zhen, Zeng Jian, Tan Xu-Hui, Xu Xiang-Min

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA. METHODS: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP. Reproducibility and specificity of the two assays were compared to a multiple ligation-dependent probe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27754957
DOI: 10.1515/cclm-2016-0275

Genes

NAIP
SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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