Mutation analysis of the COL1A1 gene in Czech patients affected by osteogenesis imperfecta, type I-IV

Abstract

Aim of the study was a molecular-genetic analysis of COL1A1 gene in 25 Czech patients suffering from ostoeogeneis imperfecta, type I-IV. COL1A1 mutations were identified in 3 of them.

Keywords

• osteogenesis imperfecta
• COL1A1
• mutations
• MLBR