Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.
Kazuhiko TakeuchiYifei XuMasako KitanoKazuki ChiyonobuMiki AboKoji IkegamiSatoru OgawaMakoto IkejiriMitsuko KondoShimpei GotohMizuho NagaoTakao FujisawaKaname NakataniPublished in: Molecular genetics & genomic medicine (2020)
The deletion of DRC1 is the major cause of PCD in Japan and this alteration can cause various ciliary ultrastructural abnormalities.