Observation of nine previously reported and 10 non-reported <i>SLC4A11</i> mutations among 20 Iranian CHED probands and identification of an <i>MPDZ</i> 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

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.

Afiliación

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 en En | MEDLINE | ID: mdl-31420327

Asunto(s)

Proteínas de Transporte de Anión/genética; Antiportadores/genética; Distrofias Hereditarias de la Córnea/genética; Distrofia Endotelial de Fuchs/genética; Proteínas de la Membrana/genética; Mutación; Polimorfismo de Nucleótido Simple/genética; Codón sin Sentido/genética; Consanguinidad; Distrofias Hereditarias de la Córnea/diagnóstico; Análisis Mutacional de ADN; Exoma/genética; Femenino; Mutación del Sistema de Lectura/genética; Distrofia Endotelial de Fuchs/diagnóstico; Humanos; Intrones/genética; Irán; Masculino; Mutación Missense/genética; Linaje

Palabras clave

cornea; genetics

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofia Endotelial de Fuchs / Distrofias Hereditarias de la Córnea / Antiportadores / Polimorfismo de Nucleótido Simple / Proteínas de Transporte de Anión / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Br J Ophthalmol Año: 2020 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google