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Association of COL1A2, COL2A1 and COL9A1 and primary osteoarthritis in a founder population

✍ Scribed by TA Snelgrove; LJ Peddle; C Stone; F Noftall; D Peddle; D Squire; P Rockwood; R Martin; Y Tobin; N Gladney; P Rahman


Book ID
110888011
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
71 KB
Volume
67
Category
Article
ISSN
0009-9163

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Stickler syndrome and the vitreous pheno
✍ Allan J. Richards; Annie McNinch; Howard Martin; Kim Oakhill; Harjeet Rai; Sarah πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 770 KB

Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can include midline clefting, hearing loss, premature oste