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Paired immunoglobulin-like type 2 receptor (PILR)β regulates inflammatory responses to pathogen infection, and therefore plays an important role in host disease resistance/susceptibility. However porcine PILRβ remains poorly characterized. In this study, we obtained the cDNA (V1) of its encoding gene, PILRB, and three alternative splicing (AS) variants (V2–4). The complete coding sequence of V1 was...
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is mostly caused by homozygous deletion of the SMN1 gene. Approximately 5%–10% of SMA patients are believed to have SMN1 variants. c.22 dupA (p.Ser8lysfs*23) has been identified as the most frequent variant in the Chinese SMA population and to be associated with a severe phenotype. However, the exact molecular...
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