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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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Main Authors: | , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
1991
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC295062/ https://ncbi.nlm.nih.gov/pubmed/1985108 |
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