Article

Establishment and quality assessment of a standardized qPCR screening protocol for spinal muscular atrophy in newborns : a nationwide multicenter study in China

2026-06-22

Abstract excerpt

<title>Abstract</title> <p> Background To develop a standardized operating procedure (SOP) for newborn screening of spinal muscular atrophy (SMA) using quantitative polymerase chain reaction (qPCR), and to evaluate the feasibility, reliability, and applicability of its large-scale implementation through multicenter clinical studies and external quality assessment (EQA) across China. Methods A multicenter obser...

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Literature Corpus work: ed5455f5-243a-58df-897d-0574c2cdf249
DOI: 10.21203/rs.3.rs-10023540/v1

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