Article

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

2020-09-09

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA. <h4>Methods: </h4>: 83 whole blood samples were collected from 28 core families of clinically suspected SMA, and multiplex ligation probe amplification (MLPA) was perf...

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Literature Corpus work: 714f4435-49eb-5480-8c6f-04117fcd7a08
DOI: 10.21203/rs.3.rs-21587/v2

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