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Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.
Moazzeni, Hamidreza; Javadi, Mohammad Ali; Asgari, Danial; Khani, Marzieh; Emami, Mohammad; Moghadam, Abolfazl; Panahi-Bazaz, Mahmoud-Reza; Hosseini Tehrani, Mehdi; Karimian, Farid; Hosseini, Bagher; Nekuie Moghadam, Tayebeh; Hassanpour, Hossein; Akbari, Mohammad Taghi; Elahi, Elahe.
Affiliation
  • Moazzeni H; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Javadi MA; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Asgari D; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran.
  • Khani M; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Emami M; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Moghadam A; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Panahi-Bazaz MR; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Hosseini Tehrani M; Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Karimian F; Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Hosseini B; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran.
  • Nekuie Moghadam T; Central Eye Bank of Iran, Tehran, Iran.
  • Hassanpour H; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Akbari MT; School of Biology, College of Science,University of Tehran, Tehran, Iran.
  • Elahi E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Br J Ophthalmol ; 104(11): 1621-1628, 2020 11.
Article de En | MEDLINE | ID: mdl-31420327

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dystrophie endothéliale de Fuchs / Dystrophies héréditaires de la cornée / Antiports / Polymorphisme de nucléotide simple / Transporteurs d'anions / Protéines membranaires / Mutation Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Female / Humans / Male Pays/Région comme sujet: Asia Langue: En Journal: Br J Ophthalmol Année: 2020 Type de document: Article Pays d'affiliation: Iran

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dystrophie endothéliale de Fuchs / Dystrophies héréditaires de la cornée / Antiports / Polymorphisme de nucléotide simple / Transporteurs d'anions / Protéines membranaires / Mutation Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Female / Humans / Male Pays/Région comme sujet: Asia Langue: En Journal: Br J Ophthalmol Année: 2020 Type de document: Article Pays d'affiliation: Iran