Article

Whole exome sequencing provides a diagnosis of spinal muscular atrophy pedigree with SMN1 “2+0” genotype

2022-10-11

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is one of the common autosomal recessive neuromuscular disease caused by mutations of the SMN1 gene. As a special SMA carrier, the “2 + 0” genotype of SMN1 poses a great challenge for carrier screening and family genetic counseling. Methods In this study, for the first time, we identified “2 + 0” genotype carriers via trio-based whole exome sequencing (WES) and...

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Literature Corpus work: 6bd9d09c-5d92-5e1b-b9fc-3d36031abe2b
DOI: 10.21203/rs.3.rs-2130080/v1

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