Dissecting the phenotypic variability of osteogenesis imperfecta

• Asıl Yazarlar: Nadia Garibaldi (Yazar), Roberta Besio (Yazar), Raymond Dalgleish (Yazar), Simona Villani (Yazar), Aileen M. Barnes (Yazar), Joan C. Marini (Yazar), Antonella Forlino (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: The Company of Biologists, 2022-05-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...