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Expression of type II and IX collagen isoforms during normal and pathological cartilage and eye development

✍ Scribed by M. Savontaus; Tapio Ihanamäki; Merja Perälä; Marjo Metsäranta; Minna Sandberg-Lall; Eero Vuorio

Book ID
106100552
Publisher
Springer
Year
1998
Tongue
English
Weight
842 KB
Volume
110
Category
Article
ISSN
1432-119X

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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