Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease

Gelijkaardige items

• 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)
• The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations
  door: Simonaro, Calogera M., et al.
  Gepubliceerd in: (2002)
• Liver and Skin Histopathology in Adults with Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
  door: Thurberg, Beth L., et al.
  Gepubliceerd in: (2012)
• Identification of a distinct mutation spectrum in the <it>SMPD1</it> gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
  door: Zhang Huiwen, et al.
  Gepubliceerd in: (2013-01-01)
• Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
  door: Zhang, Huiwen, et al.
  Gepubliceerd in: (2013)