Article

Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran

2022-09-07

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with about 1:6000 to 1:10,000 in newborns. <h4>Objectives: </h4> To evaluate the copy number variation of SMN1 and SMN2 genes between two generations, we experimented on 221 core families, including 221 patients and their parents (n=442). <h4>Materials: </h4> & methods Before sample collection, all c...

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Literature Corpus work: 8cd2d2a3-2b03-5a7e-bd45-413227f6f4d7
DOI: 10.21203/rs.3.rs-2029090/v1

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