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

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 <i>COL1A1</i>,...

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Bibliographic Details
Main Authors: Dina Nadyrshina, Aliya Zaripova, Anton Tyurin, Ildar Minniakhmetov, Ekaterina Zakharova, Rita Khusainova
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
next-generation sequencing (NGS)
I type of collagen
metabolic bone disease
Online Access:https://www.mdpi.com/2073-4425/13/1/124

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