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Copy Number Assessment of SMN1 Based on Real-Time PCR With High-Resolution Melting: Fast and Highly Reliable Testing

2021-09-07

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is a common neuromuscular disorder, caused by absence of both copies of the survival motor neuron 1 (SMN1) gene. Population-wide SMA screening to quantify copy number of SMN1 is recommended by multiple regions. SMN1 diagnostic assay with simplified procedure, high sensitivity and throughput is still needed. <h4>Methods: </h4>: Real-Time PCR with High-Resolution M...

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Literature Corpus work: f4073214-d7c8-5c12-8773-29f54190c50e
DOI: 10.21203/rs.3.rs-863046/v1

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