[P2-04] Poster Session 2-04　Mendelian Disorders

[P2-04-8] Long-read RNA-Seq reveals widespread transcript isoform changes in an IFAP syndrome patient with an MBTPS2 variant

Toshihiko Iwaki^1,2, Yosuke Nishio^2,3, Masanori Fujimoto², Emi Sato^2,6, Yuji Nakamura^2,4, Daisuke Ieda², Sachiyo Takagi^5,7, Yutaka Negishi², Ayako Hattori^2,8, Tomoo Ogi³, Shinji Saitoh² (1.Department of Pediatrics, Gamagori City Hospital, Gamagori, Japan, 2.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 3.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan, 4.Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA, 5.Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 6.Department of Pediatrics, Aichi Prefectural Welfare Federation of Agricultural Cooperatives Kainan Hospital, Yatomi, Japan, 7.Department of Dermatology, Nagoya City University Mirai Kousei Hospital, Nagoya, Japan, 8.Department of Pediatrics, Nagoya City University East Medical Center, Nagoya, Japan)

Password required to view

Log in

or