Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES)...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438871/
https://www.ncbi.nlm.nih.gov/pubmed/30850397
http://dx.doi.org/10.1042/BSR20181544

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