Nonsense Pathogenic Variants in Exon One of PHOX2B Lead to Translational Reinitiation in Congenital Central Hypoventilation Syndrome

Lignende værker

• Nonsense mutation-dependent reinitiation of translation in mammalian cells
  af: Cohen, Sarit, et al.
  Udgivet: (2019)
• Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation
  af: Schirwani, Schaida, et al.
  Udgivet: (2017)
• Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease
  af: Paglietti, Maria Giovanna, et al.
  Udgivet: (2019)
• Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
  af: Barratt, S, et al.
  Udgivet: (2007)
• Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
  af: Barratt, Shaney, et al.
  Udgivet: (2009)