Article
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
The New England journal of medicine - 26 Apr 2012
Fiskerstrand Torunn, Arshad Najla, Haukanes Bjørn Ivar, Tronstad Rune Rose, Pham Khanh Do-Cong, Johansson Stefan, Håvik Bjarte, Tønder Siv L, Levy Shawn E, Brackman Damien, Boman Helge, Biswas Kabir Hassan, Apold Jaran, Hovdenak Nils, Visweswariah Sandhya S, Knappskog Per M
Abstract excerpt
BACKGROUND: Familial diarrhea disorders are, in most cases, severe and caused by recessive mutations. We describe the cause of a novel dominant disease in 32 members of a Norwegian family. The affected members have chronic diarrhea that is of early onset, is relatively mild, and is associated with increased susceptibility to inflammatory bowel disease, small-bowel obstruction, and esophagitis. METHODS: We used...
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