Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5

por Nan, Haitian, Shimozono, Keisuke, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Hiraide, Masaki, Takiyama, Yoshihisa
Publicado 2018

Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism

por Nan, Haitian, Kim, Yeon-Jeong, Tsuchiya, Mai, Ishida, Aki, Haro, Hirotaka, Hiraide, Masaki, Ohtsuka, Toshihisa, Takiyama, Yoshihisa
Publicado 2022