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Page 1
SLC26A3 mutations in congenital chloride diarrhea.
Mäkelä S, Kere J, Holmberg C, Höglund P. Mäkelä S, et al. Among authors: hoglund p. Hum Mutat. 2002 Dec;20(6):425-38. doi: 10.1002/humu.10139. Hum Mutat. 2002. PMID: 12442266 Review.
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J. Wedenoja S, et al. Among authors: hoglund p. Hum Mutat. 2011 Jul;32(7):715-22. doi: 10.1002/humu.21498. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21394828 Review.
Oral butyrate in treatment of congenital chloride diarrhea.
Wedenoja S, Holmberg C, Höglund P. Wedenoja S, et al. Among authors: hoglund p. Am J Gastroenterol. 2008 Jan;103(1):252-4. doi: 10.1111/j.1572-0241.2007.01562_14.x. Am J Gastroenterol. 2008. PMID: 18184140 No abstract available.
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Kurotaki N, et al. Among authors: hoglund p. Genet Med. 2005 Sep;7(7):479-83. doi: 10.1097/01.gim.0000177419.43309.37. Genet Med. 2005. PMID: 16170239
15 results