A new heterozygous compound mutation in the CTSA gene in galactosialidosis

por Nakajima, Hideki, Ueno, Miki, Adachi, Kaori, Nanba, Eiji, Narita, Aya, Tsukimoto, Jun, Itoh, Kohji, Kawakami, Atushi
Publicado 2019

Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels

por Higashino, Toshihide, Morimoto, Keito, Nakaoka, Hirofumi, Toyoda, Yu, Kawamura, Yusuke, Shimizu, Seiko, Nakamura, Takahiro, Hosomichi, Kazuyoshi, Nakayama, Akiyoshi, Ooyama, Keiko, Ooyama, Hiroshi, Shimizu, Toru, Ueno, Miki, Ito, Toshimitsu, Tamura, Takashi, Naito, Mariko, Nakashima, Hiroshi, Kawaguchi, Makoto, Takao, Mikiya, Kawai, Yosuke, Osada, Naoki, Ichida, Kimiyoshi, Yamamoto, Ken, Suzuki, Hiroshi, Shinomiya, Nariyoshi, Inoue, Ituro, Takada, Tappei, Matsuo, Hirotaka
Publicado 2020