Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
| Autor: | Ouechtati, Farah1, Merdassi, Ahlem2, Bouyacoub, Yosra1, Largueche, Leila2, Derouiche, Kaouther2, Ouragini, Houyem3, Nouira, Sonia3, Tiab, Leila4, Baklouti, Karim2, Rebai, Ahmed5, Schorderet, Daniel F6, Munier, Francis L6, Zografos, Leonidas7, Abdelhak, Sonia3, Matri, Leila El2 |
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| Zdroj: | Journal of Human Genetics. Jan2011, Vol. 56 Issue 1, p22-28. 7p. |
| Databáze: | Academic Search Ultimate |
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