Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

Antzeko izenburuak

• Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
  nork: Beesley, C E, et al.
  Argitaratua: (1998)
• Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
  nork: Beesley, C, et al.
  Argitaratua: (2003)
• Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
  nork: Lee-Chen, G, et al.
  Argitaratua: (2002)
• An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA
  nork: Douek, Alon M., et al.
  Argitaratua: (2021)
• A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)
  nork: Ugrinov, Krastyu G., et al.
  Argitaratua: (2015)