Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Lignende værker

• Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
  af: Bunge, S., et al.
  Udgivet: (1999)
• Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
  af: BEESLEY, C., et al.
  Udgivet: (2000)
• Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
  af: Lee-Chen, G, et al.
  Udgivet: (2002)
• Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
  af: Beesley, C, et al.
  Udgivet: (2003)
• Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
  af: Elmas, Muhsin, et al.
  Udgivet: (2021)