Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI ) gene

Author:

Poulsen Ebbe Toftgaard123,Runager Kasper123,Risør Michael W.123,Dyrlund Thomas F.123,Scavenius Carsten123,Karring Henrik4,Praetorius Jeppe5678,Vorum Henrik9,Otzen Daniel E.123,Klintworth Gordon K.1011,Enghild Jan J.123

Affiliation:

1. Department of Molecular Biology and Genetics; Aarhus University; Aarhus Denmark

2. Interdisciplinary Nanoscience Center (iNANO); Aarhus University; Aarhus Denmark

3. Center for Insoluble Protein Structures (inSPIN); Aarhus University; Aarhus Denmark

4. Department of Chemical Engineering; Biotechnology and Environmental Technology; Faculty of Engineering; University of Southern Denmark; Odense Denmark

5. Department of Biomedicine; Aarhus University; Aarhus Denmark

6. Membranes; Aarhus University; Aarhus Denmark

7. InterPrET; Aarhus University; Aarhus Denmark

8. Department of Health, Aarhus University; Aarhus Denmark

9. Department of Ophthalmology; Aalborg University Hospital; Aalborg Denmark

10. Department of Pathology; Duke University Medical Center; Durham NC USA

11. Department of Ophthalmology; Duke University Medical Center; Durham NC USA

Funder

National Eye Institute

Danish National Research Foundation

Danish Agency for Science Technology

Publisher

Wiley

Subject

Clinical Biochemistry

Reference17 articles.

1. Global estimates of visual impairment: 2010;Pascolini;Br. J. Ophthalmol.,2012

2. Human cornea proteome: identification and quantitation of the proteins of the three main layers including epithelium, stroma, and endothelium;Dyrlund;J. Proteome Res.,2012

3. Focus on molecules: transforming growth factor beta induced protein (TGFBIp);Runager;Exp. Eye Res.,2008

4. Corneal dystrophies;Klintworth;Orphanet J. Rare Dis.,2009

5. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature;Yang;Mol. Vis.,2010

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