Article
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
Human mutation - 1 May 2007
Gerstenblith Meg R, Goldstein Alisa M, Fargnoli Maria Concetta, Peris Ketty, Landi Maria Teresa
Abstract excerpt
The melanocortin 1 receptor (MC1R), a member of the G protein-coupled receptors superfamily, mediates the response to melanocortins and is currently the best-described contributor to normal pigment variation in humans. A remarkably large number of natural polymorphisms, or variants, of the MC1R gene have been identified in different populations. Some of these variants have been associated with specific hair and...
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