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在COL1A1和COL1A2中的结构变异在骨质生成不完善中

Dominyka Batkovskyte1, Diana Swolin-Eide2,3, Anna Hammarsjö1,4

  • 1Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

American journal of medical genetics. Part A
|November 8, 2024
PubMed
概括

在I型原基因 (COL1A1/COL1A2) 中的结构变异导致骨质发生不完美 (OI). 这项研究在八名OI患者中发现了删除和重组,突出了OI患者基因剂量的重要性.

关键词:
在 COL1A1A1 中,在 COL1A2A2 中使用.骨质发生不完美症 (osteogenesis imperfecta) 是一个不完美的疾病.骨头 骨头 骨头 骨头基因组测序是指对基因组进行测序.简单地说,这是一个简单的缺陷.结构变体 结构变体

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