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A Novel Gain-of-Function Mutation in the BMPR2 Gene and Uses Thereof
A Novel Gain-of-Function Mutation in the BMPR2 Gene and Uses Thereof
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机译:BMPR2基因中的一种新功能突变及其用途
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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).
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