Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Yasuhito Kato, Kuniaki Saito, Kazuhiro Ogata, Naomichi Matsumoto
Topics & Concepts
Missense mutationPhenotypeBiologyCompound heterozygosityGeneticsAtrophyGeneBiotin and Related StudiesCellular transport and secretionGenetic Neurodegenerative Diseases