Genotype-phenotype correspondence in Sanfilippo syndrome type B.

Antzeko izenburuak

• NAGLU mutations underlying Sanfilippo syndrome type B.
  nork: Schmidtchen, A, et al.
  Argitaratua: (1998)
• The molecular basis of Sanfilippo syndrome type B.
  nork: Zhao, H G, et al.
  Argitaratua: (1996)
• Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
  nork: Beesley, C E, et al.
  Argitaratua: (1998)
• Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
  nork: Elmas, Muhsin, et al.
  Argitaratua: (2021)
• Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
  nork: Lee-Chen, G, et al.
  Argitaratua: (2002)