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Dev Cell. 2011 Jul 19;21(1):17-9. doi: 10.1016/j.devcel.2011.06.008.

Enhancers: from developmental genetics to the genetics of common human disease.

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1
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh, UK.

Abstract

In mammals, long-range gene regulation became apparent through simple Mendelian disease genetics in human and developmental genetics in the mouse. Can the insights into gene control, provided by the study of these enhancers, help us understand the functional significance of sequence variation associated with common/complex human disease and quantitative traits?

PMID:
21763601
DOI:
10.1016/j.devcel.2011.06.008
[Indexed for MEDLINE]
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