Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
LRRC56 的双等位基因突变编码一种与鞭毛内运输相关的蛋白质，导致粘液纤毛清除和侧向性缺陷
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.10.003
Bonnefoy Serge, Watson Christopher M, Kernohan Kristin D, Lemos Moara, Hutchinson Sebastian, Poulter James A, Crinnion Laura A, Berry Ian, Simmonds Jennifer, Vasudevan Pradeep, O'Callaghan Chris, Hirst Robert A, Rutman Andrew, Huang Lijia, Hartley Taila, Grynspan David, Moya Eduardo, Li Chunmei, Carr Ian M, Bonthron David T, Leroux Michel, Boycott Kym M, Bastin Philippe, Sheridan Eamonn G
