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Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.
Imani, Saber; Cheng, Jingliang; Mobasher-Jannat, Abdolkarim; Wei, Chunli; Fu, Shangyi; Yang, Lisha; Jadidi, Khosrow; Khosravi, Mohammad Hossein; Mohazzab-Torabi, Saman; Shasaltaneh, Marzieh Dehghan; Li, Yumei; Chen, Rui; Fu, Junjiang.
Afiliación
  • Imani S; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Cheng J; Hunan Normal University Medical College, Changsha, Hunan, China.
  • Mobasher-Jannat A; Chemical Injuries Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
  • Wei C; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Fu S; Chemical Injuries Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.
  • Yang L; Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran,  Iran.
  • Jadidi K; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Khosravi MH; The Honors College, University of Houston, Houston, TX, USA.
  • Mohazzab-Torabi S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Shasaltaneh MD; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Li Y; Department of Ophthalmology, Baqiyatallah University of Medical Sciences, Tehran, Iran.
  • Chen R; Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran,  Iran.
  • Fu J; Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
J Cell Mol Med ; 22(3): 1733-1742, 2018 03.
Article en En | MEDLINE | ID: mdl-29193763
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Amaurosis Congénita de Leber / Secuenciación del Exoma / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Cell Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Amaurosis Congénita de Leber / Secuenciación del Exoma / Mutación Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Cell Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido