Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing
通过靶向外显子组测序，在一个伊朗家族中发现BBS5基因中的新型剪接变异c.208+2T>C与Bardet-Biedl综合征共分离。
期刊:Bioscience Reports
影响因子:4.7
doi:10.1042/BSR20181544
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
