Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene.

@article{Patin2006SubSaharanAC,
  title={Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene.},
  author={Etienne Patin and Christine Harmant and Ken K Kidd and J. S. Kidd and Alain Froment and Syed Qasim Mehdi and Lucas Sica and Evelyne Heyer and Llu{\'i}s Quintana-Murci},
  journal={Human mutation},
  year={2006},
  volume={27 7},
  pages={720}
}
A total of 530 chromosomes from 12 sub-Saharan African populations were sequenced at the human arylamine N-acetyltransferase NAT2 gene. We identified seven novel non-synonymous mutations observed at low frequencies (<11%) in our African multi-ethnic panel. By using algorithms based on evolutionary conservation, two mutations (c.70T>A [p.L24I] and c.578C>T [p.T193M]) for which the activity of their encoded protein has never been determined, were predicted to entail a potentially damaging effect… CONTINUE READING

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