Dissecting the phenotypic variability of osteogenesis imperfecta

• Glavni autori: Nadia Garibaldi (Autor), Roberta Besio (Autor), Raymond Dalgleish (Autor), Simona Villani (Autor), Aileen M. Barnes (Autor), Joan C. Marini (Autor), Antonella Forlino (Autor)
• Format: Knjiga
• Izdano: The Company of Biologists, 2022-05-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the α1(I) and α2...