BCS1L mutations produce Fanconi syndrome with developmental disability
Kojima-Ishii Kanako, Nana Sakakibara, Kei Murayama, Koji Nagatani, Satoshi Murata, Akira Otake, Yasutoshi Koga, Hisato Suzuki, Tomoko Uehara, Kenjiro Kosaki, Koh-ichiro Yoshiura, Hiroyuki Mishima, Yuko Ichimiya, Yuichi Mushimoto, Tomoko Horinouchi, China Nagano, Tomohiko Yamamura, Kazumoto Iijima, Kandai Nozu
Topics & Concepts
AminoaciduriaFanconi syndromeMitochondrial diseaseExome sequencingGeneticsBiologyMitochondrial respiratory chainHypophosphatemiaMitochondrial DNAMitochondrial encephalomyopathyRespiratory chainMutationMitochondrionMedicineBioinformaticsGeneEndocrinologyKidneyAmino acidMitochondrial Function and PathologyMetabolism and Genetic DisordersBiomedical Research and Pathophysiology