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H. Bardak, Gunay, M., Erçalık, Y., Bardak, Y., Ozbas, H., Bagci, O., Ayata, A., Sönmez, M., and Alagöz, C., Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients, vol. 15, no. 4, p. -, 2016.
Conflicts of interestThe authors declare no conflict of interest.REFERENCESAgbaga MP, Mandal MN, Anderson RE, et al (2010). Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein. J. Lipid Res. 51: 1624-1642. Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, et al (2011). Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am. J. Hum. Genet. 89: 745-750. Ambasudhan R, Wang X, Jablonski MM, Thompson DA, et al (2004). Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics 83: 615-625. Bernstein PS, Tammur J, Singh N, Hutchinson A, et al (2001). Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest. Ophthalmol. Vis. Sci. 42: 3331-3336. Bocquet B, Lacroux A, Surget MO, Baudoin C, et al (2013). 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H. Bardak, Gunay, M., Yildiz, E., Bardak, Y., Gunay, B., Ozbas, H., and Bagci, O., Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus, vol. 15, no. 4, p. -, 2016.
Conflicts of interestThe authors declare no conflict of interest.REFERENCESAbu-Amero KK, Kalantan H, Al-Muammar AM, et al (2011). Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Mol. Vis. 17: 667-672. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, et al (2010). A method and server for predicting damaging missense mutations. Nat. Methods 7: 248-249. Arnal E, Peris-Martínez C, Menezo JL, Johnsen-Soriano S, et al (2011). Oxidative stress in keratoconus? Invest. Ophthalmol. Vis. Sci. 52: 8592-8597. Atilano SR, Coskun P, Chwa M, Jordan N, et al (2005). Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest. Ophthalmol. Vis. Sci. 46: 1256-1263. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, et al (2011). Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12: 745-755. Bick D, Dimmock D, et al (2011). Whole exome and whole genome sequencing. Curr. Opin. Pediatr. 23: 594-600. 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VSX1 gene and keratoconus: genetic analysis in Korean patients. Cornea 31: 746-750. Kymes SM, Walline JJ, Zadnik K, Sterling J, Collaborative Longitudinal Evaluation of Keratoconus Study Groupet al (2008). Changes in the quality-of-life of people with keratoconus. Am. J. Ophthalmol. 145: 611-617. Lema I, Durán JA, et al (2005). Inflammatory molecules in the tears of patients with keratoconus. Ophthalmology 112: 654-659. Li X, Bykhovskaya Y, Haritunians T, Siscovick D, et al (2012). A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum. Mol. Genet. 21: 421-429. Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, et al (2007). Molecular analysis of the VSX1 gene in familial keratoconus. Mol. Vis. 13: 1887-1891. Lv YP, Yao WJ, Chen J, Bao BL, et al (2015). Newly identified gene muscle segment homeobox C may play a role in intermuscular bone development of Hemibarbus labeo. 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Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India. BMC Med. Genet. 16: 33-43. Tanwar M, Kumar M, Nayak B, Pathak D, et al (2010). VSX1 gene analysis in keratoconus. Mol. Vis. 16: 2395-2401. Vincent AL, Jordan C, Sheck L, Niederer R, et al (2013). Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant. Mol. Vis. 19: 852-860. Wang Y, Rabinowitz YS, Rotter JI, Yang H, et al (2000). Genetic epidemiological study of keratoconus: evidence for major gene determination. Am. J. Med. Genet. 93: 403-409.<403::AID-AJMG11>3.0.CO;2-A Watson T, Chow RL, et al (2011). Absence of Vsx1 expression in the normal and damaged mouse cornea. Mol. Vis. 17: 737-744. Wheeler J, Hauser MA, Afshari NA, Allingham RR, et al. (2012). The genetics of keratoconus: a review. Reprod. Syst. Sex Disord. (Suppl 6): 001.