Article
Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.
Human mutation - 1 Jan 2013
Hyndman Brandy D, Gujral Taranjit S, Krieger Jonathan R, Cockburn Jessica G, Mulligan Lois M
Abstract excerpt
The REarranged during Transfection (RET) gene encodes a receptor tyrosine kinase required for maturation of the enteric nervous system. RET sequence variants occur in the congenital abnormality Hirschsprung disease (HSCR), characterized by absence of ganglia in the intestinal tract. Although HSCR-RET variants are predicted to inactivate RET, the molecular mechanisms of these events are not well characterized....
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