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Updated: Jan 31, 2026

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COL1A1中的C-变体可能会扰乱骨质变生不完善型III的二硫化结合

Daisuke Watanabe1,2, Nobuyuki Katsumata1, Tomohiro Saito3

  • 1Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi, Japan.

Congenital anomalies
|January 29, 2026
PubMed
概括

骨质变生不完美 (OI) 是一种严重的遗传骨疾病. 在患有OI型III的患者中发现了一种新的COL1A1基因变异 (Tyr1408Cys),影响着原组合和骨脆弱性.

关键词:
在 COL1A1A1 中,这是一种C-propeptide.半氨酸 (cysteine) 是一种氨酸.双硫化物键是一种二硫化物键.骨质发生不完美症 (osteogenesis imperfecta) 是一个

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