Article
Detection of regulatory variation in mouse genes.
Nature genetics - 1 Nov 2002
Cowles Christopher R, Hirschhorn Joel N, Altshuler David, Lander Eric S
Abstract excerpt
Functional polymorphism in genes can be classified as coding variation, altering the amino-acid sequence of the encoded protein, or regulatory variation, affecting the level or pattern of expression of the gene. Coding variation can be recognized directly from DNA sequence, and consequently its frequency and characteristics have been extensively described. By contrast, virtually nothing is known about the extent...
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