Article
Assessing type I collagen expression and quality in cellular models of osteogenesis imperfecta.
Clinical genetics - 1 Mar 2024
Udupa Prajna, Shrikondawar Akshaykumar Nanaji, Ranjan Akash, Ghosh Debasish Kumar
Abstract excerpt
Osteogenesis imperfecta (OI) is a group of genetic disorders of bone formation characterized by soft and shorter brittle bones in affected individuals. OI is generally considered a collagenopathy resulting from abnormal expression of type I collagen. As assay system to detect the cellular level and quality of type I collagen would help in rapid and correct detection of OI from the diagnostic perspectives. Here,...
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