A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents

• Main Authors: Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
• Format: Journal
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85035804538&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/56702
• Institution: Chiang Mai University

© 2017, Sociedade Brasileira de Genética. Printed in Brazil. Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy...