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pro vyhledávání: '"Leah M. Seibold"'
Autor:
Robert D. Nicholls, Jerry Vockley, Leah M. Seibold, Lina Ghaloul-Gonzalez, Cate Walsh Vockley, Rachel Wolfe, Paige Heiman, Al-Walid Mohsen, Carol A. Bertrand
Publikováno v:
American Journal of Medical Genetics. Part a
Guanylate cyclase 2C (GC‐C), encoded by the GUCY2C gene, is implicated in hereditary early onset chronic diarrhea. Several families with chronic diarrhea symptoms have been identified with autosomal dominant, gain‐of‐function mutations in GUCY2