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Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp.
Runager K, Basaiawmoit RV, Deva T, Andreasen M, Valnickova Z, Sørensen CS, Karring H, Thøgersen IB, Christiansen G, Underhaug J, Kristensen T, Nielsen NC, Klintworth GK, Otzen DE, Enghild JJ. Runager K, et al. Among authors: karring h. J Biol Chem. 2011 Feb 18;286(7):4951-8. doi: 10.1074/jbc.M110.181099. Epub 2010 Dec 6. J Biol Chem. 2011. PMID: 21135107 Free PMC article.
Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene.
Poulsen ET, Runager K, Risør MW, Dyrlund TF, Scavenius C, Karring H, Praetorius J, Vorum H, Otzen DE, Klintworth GK, Enghild JJ. Poulsen ET, et al. Among authors: karring h. Proteomics Clin Appl. 2014 Apr;8(3-4):168-77. doi: 10.1002/prca.201300058. Epub 2014 Feb 16. Proteomics Clin Appl. 2014. PMID: 24302499 Free PMC article.
29 results