R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

Gelijkaardige items

• Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish Patients
  door: Rodríguez-Pascau, Laura, et al.
  Gepubliceerd in: (2009)
• Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease
  door: Rhein, Cosima, et al.
  Gepubliceerd in: (2015)
• Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients
  door: Cheema, Huma Arshad, et al.
  Gepubliceerd in: (2020)
• Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease
  door: Desnick, Jonathan P, et al.
  Gepubliceerd in: (2010)
• Characterization of Common SMPD1 Mutations Causing Types A & B Niemann-Pick Disease and Generation of Mutation-Specific Mouse Models
  door: Jones, Iwan, et al.
  Gepubliceerd in: (2008)