Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6

@inproceedings{Tuncay2016GeneticAO,
  title={Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6},
  author={Fulya Yaylacioğlu Tuncay and G{\"u}ls{\"u}m Kayman Kurekci and Sezen Guntekin Ergun and Ozge Tuğçe Paşaoğlu and Rustu Fikret Akata and Pervin Rukiye Dincer},
  booktitle={Molecular vision},
  year={2016}
}
PURPOSE To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate… CONTINUE READING

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