Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing

Lignende værker

• Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
  af: Elmas, Muhsin, et al.
  Udgivet: (2020)
• Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
  af: Elmas, Muhsin, et al.
  Udgivet: (2020)
• Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
  af: Lee-Chen, G, et al.
  Udgivet: (2002)
• Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
  af: Bunge, S., et al.
  Udgivet: (1999)
• Mucopolysaccharidosis IIIB (Sanfilippo Syndrome B) in a Commercial Emu (Dromaius novaehollandiae) Flock
  af: Genger, Seiche C., et al.
  Udgivet: (2017)