Article
Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array.
Haematologica - 1 Feb 2012
Kim Hee-Jin, Kim Duk-Kyung, Yoo Ki-Young, You Chur-Woo, Yoo Jong-Ha, Lee Ki-O, Park In-Ae, Choung Hae-Sun, Kim Hee-Jung, Song Min-Jung, Kim Sun-Hee
Abstract excerpt
BACKGROUND: The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations. We performed genome-wide single nucleotide polymorphism-array in hereditary coagulopathy to delineate the extent of copy number mutations and to assess its diagnostic utility. DESIGN AND METHODS: The study subjects were 17 patients with...
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