Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII

Prajna Udupa, Akshaykumar Nanaji Shrikondawar, Shalini S. Nayak, Hitesh Shah, Akash Ranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Debasish Kumar Ghosh