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Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.

In a family who expressed severe dominantly inherited osteoarthritis, the underlying mutation was traced by genomic sequencing to a single base change which predicts an amino acid substitution of cysteine for arginine at residue 519 of the triple-helical domain of the type II collagen molecule (Ala-...

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Autori principali: Eyre, D R, Weis, M A, Moskowitz, R W
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1991
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC295062/
https://ncbi.nlm.nih.gov/pubmed/1985108
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