A Common Intron 3 Mutation (IVS3 −48c→g) Leads to Misdiagnosis of the c.845G→A (C282Y) HFE Gene Mutation

This publication has 10 references indexed in Scilit:

• Hemochromatosis Population Screening
  Genetic Testing, 2000
• PCR Conditions for HFE C282Y: Lack of Effect of 5569G/A Polymorphism with 55 °C Annealing
  Clinical Chemistry, 2000
• Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
  Nature Genetics, 1999
• An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis
  American Journal of Human Genetics, 1999
• Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis
  Blood Cells, Molecules, and Diseases, 1999
• Commentary on Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis by J. Nico P. de Villiers and Maritha J. Kotze
  Blood Cells, Molecules, and Diseases, 1999
• Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
  Nature Genetics, 1999
• A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
  Nature Genetics, 1996
• Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion
  Human Mutation, 1994
• Genotyping Errors with the Polymerase Chain Reaction
  New England Journal of Medicine, 1990