Buccal swab testing with the AmplideX PCR/CE SMN1/2 Plus Kit that assesses copy number and critical mutations for SMA
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism"
DOI: 10.1016/s1096-7192(21)00499-6
Abstract: Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that results from mutation of the survival motor neuron 1 gene (SMN1) and the most common genetic cause of infant death. Approximately 95% of… read more here.
Keywords: smn1; smn1 plus; copy number; plus kit ... See more keywords