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Home > Featured Articles > Familial diarrhea syndrome caused by an activating GUCY2C mutation > Familial diarrhea syndrome caused by an activating GUCY2C mutation

Familial diarrhea syndrome caused by an activating GUCY2C mutation [1]

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.

Original Source [2]

Publication Date: 
26/04/2012
Torunn Fiskerstrand [3], Najla Arshad [4], Bjørn Ivar Haukanes & et al [5]
New England Journal of Medicine [6]
366
17
1586-1595
Tags:
Diarrhoea [7], Medical Research [8], Norway [9], Genetic Disorders [10]
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Source URL: http://admin.indiaenvironmentportal.org.in/feature-article/familial-diarrhea-syndrome-caused-activating-gucy2c-mutation

Links:
[1] http://admin.indiaenvironmentportal.org.in/feature-article/familial-diarrhea-syndrome-caused-activating-gucy2c-mutation
[2] http://www.nejm.org/doi/pdf/10.1056/NEJMoa1110132
[3] http://admin.indiaenvironmentportal.org.in/category/author/torunn-fiskerstrand
[4] http://admin.indiaenvironmentportal.org.in/category/author/najla-arshad
[5] http://admin.indiaenvironmentportal.org.in/category/author/bj%C3%B8rn-ivar-haukanes-et-al
[6] http://admin.indiaenvironmentportal.org.in/category/journal/new-england-journal-medicine
[7] http://admin.indiaenvironmentportal.org.in/category/thesaurus/diarrhoea
[8] http://admin.indiaenvironmentportal.org.in/category/thesaurus/medical-research
[9] http://admin.indiaenvironmentportal.org.in/category/thesaurus/norway
[10] http://admin.indiaenvironmentportal.org.in/category/thesaurus/genetic-disorders