Article
Genetic association and cellular function of MC1R variant alleles in human pigmentation.
Annals of the New York Academy of Sciences - 1 Jun 2003
Sturm R A, Duffy D L, Box N F, Newton R A, Shepherd A G, Chen W, Marks L H, Leonard J H, Martin N G
Abstract excerpt
We have examined MC1R variant allele frequencies in the general population of South East Queensland and in a collection of adolescent dizygotic and monozygotic twins and family members to define statistical associations with hair and skin color, freckling, and mole count. Results of these studies are consistent with a linear recessive allelic model with multiplicative penetrance in the inheritance of red hair....
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