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Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

A cosmid clone was isolated that contained an allele for the type II procollagen gene previously shown to be coinherited with primary generalized osteoarthritis in a large family. Affected members of the family had evidence of a mild chondrodysplasia, but they developed progressive osteoarthritic ch...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Ala-Kokko, L, Baldwin, C T, Moskowitz, R W, Prockop, D J
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1990
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC54577/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1975693/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.17.6565
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