A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

Những quyển sách tương tự

• From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides
  Bằng: Bergsma, Atze J, et al.
  Được phát hành: (2016)
• Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
  Bằng: van der Wal, Erik, et al.
  Được phát hành: (2017)
• Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening
  Bằng: de Faria, Douglas O. S., et al.
  Được phát hành: (2020)
• A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI
  Bằng: Broeders, Mike, et al.
  Được phát hành: (2020)
• Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity
  Bằng: Niño, Monica Y., et al.
  Được phát hành: (2019)