SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.03.002
Abstract: BACKGROUND AND PURPOSE Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to… read more here.
Keywords: smn1; sma patients; mutations smn; smn ... See more keywords
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