2020•Clinica Chimica ActaOpen access

Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy

Sunggyun Park, Hyeonah Lee, Saeam Shin, Seung‐Tae Lee, Kyung‐A Lee, Jong Rak Choi

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Key concepts: SMN1, Spinal muscular atrophy, Digital polymerase chain reaction, SMA*, Multiplex ligation-dependent probe amplification, Exon, Copy-number variation, Biology