SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-comp...

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Bibliographic Details
Main Authors: Fabre, Alexandre, Charroux, Bernard, Martinez-Vinson, Christine, Roquelaure, Bertrand, Odul, Egritas, Sayar, Ersin, Smith, Hilary, Colomb, Virginie, Andre, Nicolas, Hugot, Jean-Pierre, Goulet, Olivier, Lacoste, Caroline, Sarles, Jacques, Royet, Julien, Levy, Nicolas, Badens, Catherine
Format: Artigo
Language:Inglês
Published: Elsevier 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322239/
https://ncbi.nlm.nih.gov/pubmed/22444670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.02.009
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