Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Author:

Ouechtati Farah,Merdassi Ahlem,Bouyacoub Yosra,Largueche Leila,Derouiche Kaouther,Ouragini Houyem,Nouira Sonia,Tiab Leila,Baklouti Karim,Rebai Ahmed,Schorderet Daniel F,Munier Francis L,Zografos Leonidas,Abdelhak Sonia,Matri Leila El

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference33 articles.

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3. Sharpe, L. T., Stockman, A., Jagle, H. & Nathans, J. Opsin Genes, Cone Photopigments, Color Vision, and Color Blindness. Color Vision, from Genes to Perception. 3–52 (Cambridge University Press, Cambridge, 1999).

4. Goodman, G., Ripps, H. & Siegel, I. M. Cone dysfunction syndromes. Arch. Ophthalmol 70, 214–231 (1963).

5. Waardenburg, P. J. Colour sense and dyschromatopsia. in Genetics and Ophthalmology, Vol II (eds Waardenburg, P.J., Franceschetti, A. & Klein, D.) 1425–1566 (Royal van Gorcum, Assen, Netherlands, 1963).

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