Tohoku University Tohoku Medical Megabank Organization (Keiko Nakayama)
2021.04.08

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3.   Wada Yoichi, Kikuchi Atsuo, Kaga Akimune, et al. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice. PLOS Genetics. 2020; 16 (2): e1008628. doi:10.1371/journal.pgen.1008628  
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7.   Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human Genetics. 2015; 134 (6): 649-658. doi:10.1007/s00439-015-1553-6  
8.   Fujiwara Tohru, Fukuhara Noriko, Funayama Ryo, et al. Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia. Annals of Hematology. 2014; 93 (9): 1515-1522. doi:10.1007/s00277-014-2090-4