Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL...

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Detalles Bibliográficos
Autores principales: Nadyrshina, Dina, Zaripova, Aliya, Tyurin, Anton, Minniakhmetov, Ildar, Zakharova, Ekaterina, Khusainova, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774438/
https://www.ncbi.nlm.nih.gov/pubmed/35052464
http://dx.doi.org/10.3390/genes13010124

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