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Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone development. In 2016, we described the first X-li...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Genet
Päätekijät: Lim, Pei Jin, Marfurt, Severin, Lindert, Uschi, Opitz, Lennart, Ndarugendamwo, Timothée, Srikanthan, Pakeerathan, Poms, Martin, Hersberger, Martin, Langhans, Claus-Dieter, Haas, Dorothea, Rohrbach, Marianne, Giunta, Cecilia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2021
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8176293/
https://ncbi.nlm.nih.gov/pubmed/34093655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.662751
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