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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Ü Basmanav FB, et al. Among authors: ferguson djp. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866708 Free PMC article.
Regulation of the erythropoietin gene.
Ratcliffe PJ, Ebert BL, Ferguson DJ, Firth JD, Gleadle JM, Maxwell PH, Pugh CW. Ratcliffe PJ, et al. Nephrol Dial Transplant. 1995;10 Suppl 2:18-27. doi: 10.1093/ndt/10.supp2.18. Nephrol Dial Transplant. 1995. PMID: 7644101 Review. No abstract available.
206 results