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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Hartley JL, et al. Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20. Gastroenterology. 2010. PMID: 20176027 Free PMC article.
Alterations in the proteome of the NHERF1 knockout mouse jejunal brush border membrane vesicles.
Donowitz M, Singh S, Singh P, Salahuddin FF, Chen Y, Chakraborty M, Murtazina R, Gucek M, Cole RN, Zachos NC, Kovbasnjuk O, Broere N, Smalley-Freed WG, Reynolds AB, Hubbard AL, Seidler U, Weinman E, de Jonge HR, Hogema BM, Li X. Donowitz M, et al. Physiol Genomics. 2010 Nov 15;42A(3):200-10. doi: 10.1152/physiolgenomics.00001.2010. Epub 2010 Aug 24. Physiol Genomics. 2010. PMID: 20736413 Free PMC article.
12 results