Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

@article{Villiers1999SpectrumOM,
  title={Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.},
  author={J Nico P de Villiers and Renate Hillermann and Lynzie Loubser and Maritha J. Kotze},
  journal={Human molecular genetics},
  year={1999},
  volume={8 8},
  pages={1517-22}
}
Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation polymorphism (HEX-SSCP) method, revealed three previously described and four novel missense mutations. Novel variants V53M and V59M were identified in exon 2, Q127H in exon 3 and… CONTINUE READING

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