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

Antzeko izenburuak

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