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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.
Affiliation
  • Ouechtati F; Molecular Investigation of Genetic Orphan Diseases Research Unit UR04/SP03, Pasteur Institute, Tunis, Tunisia.
J Hum Genet ; 56(1): 22-8, 2011 Jan.
Article in En | MEDLINE | ID: mdl-21107338
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Color Vision Defects / Codon, Nonsense / Eye Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Africa Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2011 Document type: Article Affiliation country: Tunisia Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Color Vision Defects / Codon, Nonsense / Eye Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Africa Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2011 Document type: Article Affiliation country: Tunisia Country of publication: United kingdom