Một trường hợp đột biến tạo mã kết thúc trên gen Col1A1 ở bệnh nhân tạo xương bất toàn

Osteogenesis Imperfecta (OI) is autosomal dominant genetic disease. The disease caused due to mutation in COL 1A1 gene. The study's objective was to identify the mutation in COL 1A1 gene. The result indicated that nonsense mutation in exon 6 of COL 1A1 gene was found in patient. In conclusion, this is the first case who was found to have a nonsense mutation in Vietnamese OI patient.