Publication
Identification of novel SNORD118
mutations in seven patients with leukoencephalopathy with brain calcifications and cysts
IWAMA et al.
Kazuhiro Iwama, Takeshi Mizuguchi, Jun-ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto
Clinical Genetics, March 2017, Wiley
DOI: 10.1111/cge.12991