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- Y Ohata, S Takeyari, Y Nakano, T Kitaoka, H Nakayama, V Bizaoui, K Yamamoto, K Miyata, M Fujiwara, T Kubota, T Michigami, T Yamamoto, N Namba, K Ebina, H Yoshikawa, and K Ozono.
- Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
- Osteoporos Int. 2019 Nov 1; 30 (11): 2333-2342.
AbstractTo elucidate mutation spectrum and genotype-phenotype correlations in Japanese patients with OI, we conducted comprehensive genetic analyses using NGS, as this had not been analyzed comprehensively in this patient population. Most mutations were located on COL1A1 and COL1A2. Glycine substitutions in COL1A1 resulted in the severe phenotype.
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