Presentation Information
[O3-02]Functional and protein structural analyses of 4 GNAS-Gsα variants associated with gain-of-function phenotypes
Maiko Ikeda1, Fumiko Kato1, Chikahiko Numakura2,3, Atilano Carcavilla4,5, Guiomar Perez de Nanclares6, Gen Nishimura7, Naoya Saijo8, Jun Takayama9,10, Yasuko Fujisawa1, Toru Sengoku11, Kazuhiro Ogata12, Hirotomo Saitsu13, Tsutomu Ogata1,14 (1. Department of Pediatrics, Hamamatsu University School of Medicine, 2. Department of Pediatrics, Yamagata University School of Medicine, 3. Department of Genomic Medicine, Saitama Medical University Hospital, 4. Pediatric Endocrinology Department, Universidad Autonoma de Madrid, University Hospital La Paz, 5. Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, University Hospital La Paz, 6. Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Research Health Institute, Araba University Hospital, 7. Department of Radiology, Musashino-Yowakai Hospital, 8. Department of Pediatrics, Tohoku University Graduate School of Medicine, 9. Tohoku University Graduate School of Medicine, 10. Department of AI and Innovative Medicine, Tohoku University School of Medicine, 11. Department of Biochemistry, Yokohama City University Graduate School of Medicine, 12. Innovation & Research Support Center, Graduate School, International University of Health and Welfare, 13. Department of Biochemistry, Hamamatsu University School of Medicine, 14. Department of Pediatrics, Hamamatsu Medical Center)
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