Article
Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes.
Annals of human biology - 1 Jan 2015
López Saioa, García Iker, Smith Isabel, Sevilla Arrate, Izagirre Neskuts, de la Rúa Concepción, Alonso Santos
Abstract excerpt
BACKGROUND: Copy Number Variants (CNVs) contribute to a large fraction of genetic diversity and some of them have been reported to offer an evolutionary advantage. AIM: To identify CNVs in pigmentary loci that could contribute to human skin pigmentation diversity. SUBJECTS AND METHODS: This study assessed the existence of CNVs in every exon of candidate genes: TYR, TYRP1, DCT, MC1R and SLC24A5, using the...
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