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Autor:
Andrew K. Poznanski, Andrea Superti-Furga, Yelena Shusterman, Luisa Bonafé, Andreas Zankl, Lauren M. Pachman, David A. Fishman, Fengqiang Wang
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 22(2)
Torg syndrome is a multicentric osteolysis syndrome of unknown etiology. We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. MMP2 mutations were previously identified in patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a77b576eb49f5bdb8d402167acddc4
https://pubmed.ncbi.nlm.nih.gov/17059372
https://pubmed.ncbi.nlm.nih.gov/17059372
