Familial diarrhea syndrome caused by an activating GUCY2C mutation.

@article{Fiskerstrand2012FamilialDS,
  title={Familial diarrhea syndrome caused by an activating GUCY2C mutation.},
  author={Torunn Fiskerstrand and Najla Arshad and Bj{\o}rn Ivar Haukanes and Rune R Tronstad and Khanh D-C Pham and Stefan Johansson and Bjarte H{\aa}vik and Siv L T{\o}nder and Shawn E. Levy and Damien Brackman and Helge Boman and Kabir Hassan Biswas and Jaran Apold and Nils Hovdenak and Sandhya S Visweswariah and Per Morten Knappskog},
  journal={The New England journal of medicine},
  year={2012},
  volume={366 17},
  pages={
          1586-95
        }
}
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 linkage analysis, based on arrays with single-nucleotide polymorphisms, to identify a… CONTINUE READING
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