Explanation for mild and severe osteogenesis imperfecta phenotypes due to splice variants at c.2029-1 in COL1A1

Autor: Radhakrishnan, Periyasamy 1, Somashekar, Puneeth H. 1, Girisha, Katta M.
Zdroj: In Gene Reports December 2020 21
Databáze: ScienceDirect