Article
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.
Nature - 14 Apr 2005
Emison Eileen Sproat, McCallion Andrew S, Kashuk Carl S, Bush Richard T, Grice Elizabeth, Lin Shin, Portnoy Matthew E, Cutler David J, Green Eric D, Chakravarti Aravinda
Abstract excerpt
The identification of common variants that contribute to the genesis of human inherited disorders remains a significant challenge. Hirschsprung disease (HSCR) is a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations in the receptor tyrosine kinase RET contribute to risk in combination with mutations at other genes. We have used family-based association studies to...
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