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

Benzer Materyaller

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