Kenichiro Yamada   Kiyokuni Miura   Kenju Hara   Motomasa Suzuki   Keiko Nakanishi   Toshiyuki Kumagai   Naoko Ishihara   Yasukazu Yamada   Ryozo Kuwano   Shoji Tsuji   Nobuaki Wakamatsu   
BMC MEDICAL GENETICS 11 171 2010年12月
Background: SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disea...