A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
Zahra BahmanpourYousef DaneshmandpourSomayeh KazeminasabSoudabeh Khalil KhaliliElham AlehabibMarjan ChapiMohsen SoosanabadiHossein DarvishBabak EmamalizadehPublished in: International ophthalmology (2020)
This study was conducted to show the aberrant alternative splicing as one of the single splicing mutations identified can cause BBS by affecting the function of SDCCAG8 protein.