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Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.
Imani, Saber; Cheng, Jingliang; Fu, Jiewen; Mobasher-Jannat, Abdolkarim; Wei, Chunli; Mohazzab-Torabi, Saman; Jadidi, Khosrow; Khosravi, Mohammad Hossein; Shasaltaneh, Marzieh Dehghan; Yang, Lisha; Khan, Md Asaduzzaman; Fu, Junjiang.
Afiliación
  • Imani S; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Cheng J; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Fu J; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Mobasher-Jannat A; Institute of Medical Technology, Xiangtan Medicine and Health Vocational College, Xiangtan, Hunan, China.
  • Wei C; Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran.
  • Mohazzab-Torabi S; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Jadidi K; State Key Laboratory of Quality Research in Chinese Medicine, Macau Institute for Applied Research in Medicine and Health, Macau University of Science and Technology, Macau (SAR), China.
  • Khosravi MH; Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
  • Shasaltaneh MD; Department of Ophthalmology, Bina Eye Hospital Research Center, Tehran, Iran.
  • Yang L; Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran.
  • Khan MA; Department of Biology, Faculty of Science, University of Zanjan, Zanjan, Iran.
  • Fu J; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Biosci Rep ; 39(3)2019 03 29.
Article en En | MEDLINE | ID: mdl-30850397
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Síndrome de Bardet-Biedl / Proteínas del Citoesqueleto / Proteínas de Unión a Fosfato / Secuenciación del Exoma / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Biosci Rep Año: 2019 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: Empalme del ARN / Síndrome de Bardet-Biedl / Proteínas del Citoesqueleto / Proteínas de Unión a Fosfato / Secuenciación del Exoma / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Biosci Rep Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido