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Ophthalmic Genetics Volume 37, 2016 - Issue 4
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Letters to the Journal

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient

Lubica DudakovaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech RepublicView further author information
,
Michalis PalosDepartment of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Prague, Czech RepublicView further author information
,
Katerina JirsovaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech RepublicView further author information
,
Pavlina SkalickaDepartment of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Prague, Czech RepublicView further author information
,
Pavel DundrInstitute of Pathology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech RepublicView further author information
&
Petra LiskovaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic;Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Prague, Czech RepublicCorrespondence[email protected]
View further author information
Pages 473-474 | Published online: 30 Mar 2016

References

  • Weiss JS, Møller HU, Aldave AJ, et al. The IC3D classification of the corneal dystrophies – Edition 2. Cornea 2015;34:117–159.
  • Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis 2009;4:7.
  • Munier FL, Frueh BE, Othenin-Girard P, et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 2002;43:949–954.
  • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols 2009;4:1073–1081.
  • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nature Methods 2010;7:248–249.
  • Li B, Krishnan VG, Mort ME, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009;25:2744–2750.
  • Calabrese R, Capriotti E, Fariselli P, et al. Functional annotations improve the predictive score of human disease-related mutations in proteins. Human Mutation 2009;30:1237–1244.
  • Edelstein SL, Huang AJ, Harocopos GJ, et al. Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. Cornea 2010;29:698–700.

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