Cartilage canals in human thyroid cartilage characterized by immunolocalization of collagen types I, II, pro-III, IV and X

Mutations in fibrillar collagens (types

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

✍ Helena Kuivaniemi; Gerard Tromp; Darwin J. Prockop 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 2 views

This review summarizes the data on 278 different mutations found to date in the genes for types I, II, III, IX, X, and XI collagens from 317 apparently unrelated patients. A majority (217 mutations; 78% of the total) of the mutations are single-base and either change the codon of a critical amino ac