Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Gelijkaardige items

• Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
  door: Witsch-Baumgartner, M., et al.
  Gepubliceerd in: (2000)
• Molecular cloning and expression of the human Δ7-sterol reductase
  door: Moebius, Fabian F., et al.
  Gepubliceerd in: (1998)
• Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome
  door: Witsch-Baumgartner, Martina, et al.
  Gepubliceerd in: (2015)
• Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]
  door: Witsch-Baumgartner, Martina, et al.
  Gepubliceerd in: (2013)
• 7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
  door: Fitzky, Barbara U., et al.
  Gepubliceerd in: (2001)