Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene

Lignende værker

• Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
  af: Caciotti, Anna, et al.
  Udgivet: (2018)
• Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations
  af: Morrone, A, et al.
  Udgivet: (2014)
• Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
  af: Morrone, Amelia, et al.
  Udgivet: (2014)
• RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
  af: Young Bae Sohn, et al.
  Udgivet: (2022-06-01)
• LATE INFANTILE TYPE OF METACHROMATIC LEUKODYSTROPHY CAUSED BY NOVEL COMBINATION OF HETEROZYGOUS ARSA MUTATIONS
  af: Kavecan, I.I., et al.
  Udgivet: (2018)