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
| Autor: | Udupa, Prajna, Shrikondawar, Akshaykumar Nanaji, Nayak, Shalini S., Shah, Hitesh, Ranjan, Akash, Girisha, Katta M., Bhavani, Gandham SriLakshmi, Ghosh, Debasish Kumar |
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| Zdroj: | In BBA - Molecular Basis of Disease August 2023 1869(6) |
| Databáze: | ScienceDirect |
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