Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer
CCDC11 基因突变会导致内脏逆位，因为该基因编码一种含有纤毛蛋白的卷曲螺旋，导致左右组织中单纤毛运动障碍
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.22738
Vijayashankaranarayanan Narasimhan, Rim Hjeij, Shubha Vij, Niki Tomas Loges, Julia Wallmeier, Cordula Koerner-Rettberg, Claudius Werner, Surin Kumar Thamilselvam, Adrian Boey, Semil P Choksi, Petra Pennekamp, Sudipto Roy, Heymut Omran
