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

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 ; El Matri, Leila ;Ben Hassine, Hichem (Editor)

Journal of Human Genetics, January 2011, Vol.56(1), pp.22-8 [Peer Reviewed Journal]

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