1. Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. Issue 6 (27th March 2020) Authors: Hayashi, Takaaki; Hosono, Katsuhiro; Kubo, Akiko; Kurata, Kentaro; Katagiri, Satoshi; Mizobuchi, Kei; Kurai, Minehiro; Mamiya, Norihito; Kondo, Mineo; Tachibana, Toshiaki; Saitsu, Hirotomo; Ogata, Tsutomu; Nakano, Tadashi; Hotta, Yoshihiro Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗