Article

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

2019-08-15

Abstract excerpt

<title>Abstract</title> <p>Background Some spinal muscular atrophy (SMA) cases are caused by either compound heterozygosity with a point mutation in one allele and a deletion in the other or compound heterozygous point mutations in SMN1 or other genes. Methods To explore more genes and mutations in the onset of SMA, 83 whole blood samples were collected from 28 core families of clinically suspected SMA, and multi...

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Literature Corpus work: ecfab418-9f64-5e3d-93b3-6f32a24539f4
DOI: 10.21203/rs.2.12903/v1

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