Article
Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.
PloS one - 1 Jan 2012
Tsetskhladze Zurab R, Canfield Victor A, Ang Khai C, Wentzel Steven M, Reid Katherine P, Berg Arthur S, Johnson Stephen L, Kawakami Koichi, Cheng Keith C
Abstract excerpt
A major challenge in personalized medicine is the lack of a standard way to define the functional significance of the numerous nonsynonymous, single nucleotide coding variants that are present in each human individual. To begin to address this problem, we have used pigmentation as a model polygenic trait, three common human polymorphisms thought to influence pigmentation, and the zebrafish as a model system. The...
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