Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Podobne knjige/članki

• Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
  od: Beesley, C E, et al.
  Izdano: (1998)
• Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
  od: Bunge, S., et al.
  Izdano: (1999)
• Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
  od: Elmas, Muhsin, et al.
  Izdano: (2021)
• NAGLU mutations underlying Sanfilippo syndrome type B.
  od: Schmidtchen, A, et al.
  Izdano: (1998)
• Mucopolysaccharidosis IIIB (Sanfilippo Syndrome B) in a Commercial Emu (Dromaius novaehollandiae) Flock
  od: Genger, Seiche C., et al.
  Izdano: (2017)