Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations

Lignende værker

• Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
  af: Beesley, C E, et al.
  Udgivet: (1998)
• Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
  af: Lee-Chen, G, et al.
  Udgivet: (2002)
• Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
  af: Elmas, Muhsin, et al.
  Udgivet: (2021)
• Mucopolysaccharidosis IIIB (Sanfilippo Syndrome B) in a Commercial Emu (Dromaius novaehollandiae) Flock
  af: Genger, Seiche C., et al.
  Udgivet: (2017)
• Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
  af: Hřebíček, Martin, et al.
  Udgivet: (2006)