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filingDate 2020-12-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_64704c1b637550b6991cbfc04a07c7d0
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publicationDate 2021-12-23-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2021256646-A1
titleOfInvention Novel gain-of-function mutant of bmpr2 gene and use thereof
abstract Disclosed is a technique for identifying a mutation of a particular gene as a new case of an FOP-like phenotype, in addition to the existing ACVR1-R206H mutation known as a cause of FOP and utilizing the identified mutation in the bone disease treatment through osteogenic differentiation. The present invention provides a bone morphogenetic protein type 2 receptor (BMPR2)-E376K mutant in which the 376th amino acid glutamic acid (E) is mutated into lysine (K) in the BMPR2 gene encoding BMPR2.
priorityDate 2020-06-19-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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