Article
Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene.
Human mutation - 1 Jul 2006
Patin Etienne, Harmant Christine, Kidd Ken K, Kidd Judith, Froment Alain, Mehdi S Qasim, Sica Lucas, Heyer Evelyne, Quintana-Murci Lluís
Abstract excerpt
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...
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