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Functional consequences of C-terminal mutations in RUNX2

Cleidocranial dysplasia (CCD) is a genetic disorder caused by mutations in the RUNX2 gene, affecting bone and teeth development. Previous studies focused on mutations in the RUNX2 RHD domain, with limited investigation of mutations in the C-terminal domain. This study aimed to investigate the functi...

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Detalles Bibliográficos
Autores principales: Thaweesapphithak, Sermporn, Theerapanon, Thanakorn, Rattanapornsompong, Khanti, Intarak, Narin, Kanpittaya, Pimsiri, Trachoo, Vorapat, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10374887/
https://www.ncbi.nlm.nih.gov/pubmed/37500953
http://dx.doi.org/10.1038/s41598-023-39293-1