Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome

This publication has 14 references indexed in Scilit:

• Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
  European Journal of Human Genetics, 2001
• Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome
  Molecular Genetics and Metabolism, 2001
• Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
  American Journal of Human Genetics, 2000
• Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
  American Journal of Human Genetics, 1998
• Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome
  Proceedings of the National Academy of Sciences, 1998
• Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
  American Journal of Human Genetics, 1998
• Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
  Journal of Medical Genetics, 1998
• Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1995
• Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
  The Lancet, 1993
• Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
  Nucleic Acids Research, 1989