https://pmc.ncbi.nlm.nih.gov/articles/PMC12401551/
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy - PMC
Spinal muscular atrophy 5q (SMA) is a motor neuron disorder caused by recessive pathogenic variants in the SMN1 gene, which encodes the survival motor neuron...
https://www.ncbi.nlm.nih.gov/gene?term=6606
SMN1 survival of motor neuron 1, telomeric [Homo sapiens (human)] - Gene - NCBI
survival of motor neuron 1
https://www.thermofisher.com/antibody/product/SMN1-SMN2-Antibody-clone-2B1-Monoclonal/MA1-5878
SMN1/SMN2 Monoclonal Antibody (2B1) | Invitrogen (MA1-5878)
Detect SMN1/SMN2 in WB, ICC/IF, IHC (P), Flow, ELISA. Reacts with Mouse, Goat, Rabbit. Cited in 1 publication. Catalog # MA1-5878
monoclonal antibodysmn1smn22b1invitrogen
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1406819/full
Frontiers | SMN1 c.5CG (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis...
IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely ...