Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.
Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Wang T, Tanaka M, Hayashi H, Kawabe N, Robinson PN, Zemojtel T, Mine T.
Kagawa T, et al. Among authors: sakugawa h.
Hum Mutat. 2015 Mar;36(3):327-32. doi: 10.1002/humu.22745.
Hum Mutat. 2015.
PMID: 25546334