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A Novel Gain-of-Function Mutation in the BMPR2 Gene and Uses Thereof

机译:BMPR2基因中的一种新功能突变及其用途

摘要

In addition to the existing ACVR1-R206H mutation, which is known as the cause of FOP, as a new case of FOP-like phenotype, a technology that can discover a mutation in a specific gene and use it for the treatment of bone diseases through osteogenic differentiation is disclosed. The present invention provides a BMPR2-E376K mutant in which the amino acid at position 376 of the BMPR2 gene encoding bone morphogenetic protein type 2 receptors (BMPR2) is mutated from glutamic acid (E) to lysine (K).
机译:除了现有的ACVR1-R206H突变之外,这被称为FOP的原因,作为FOP样表型的新案例,一种可以在特定基因中发现突变并使用它来治疗骨疾病的技术 公开了成骨分化。 本发明提供了一种BMPR2-E376K突变体,其中编码骨形态发生蛋白2受体(BMPR2)的BMPR2基因的位置376处的氨基酸由谷氨酸(E)突变为赖氨酸(K)。

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