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Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.

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Vikkula, Miikka [UCL] Palotie, A Ritvaniemi, P Ott, J Ala-Kokko, L Peltonen, L

Familial OA with classic clinical and radiographic findings is tightly linked to the COL2A1 gene. Systematic screening of the 54 exons did not, however, reveal any mutations; this suggests that the mutation may lie in the promoter region or within the introns of this 35-kb gene.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 1993
Language Anglais
Journal information "Arthritis and rheumatism" - Vol. 36, no.3, p. 401-9 (1993)
Peer reviewed yes
Publisher John Wiley & Sons, Ltd. (USA)
issn 1529-0131
Publication status Publié
Affiliation UCL - SSS/DDUV - Institut de Duve
MESH Subject Adolescent ; Lod Score ; Male ; Middle Aged ; Molecular Sequence Data ; Oligonucleotide Probes ; Osteoarthritis ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Adult ; Procollagen ; Base Sequence ; DNA Mutational Analysis ; Electrophoresis, Polyacrylamide Gel ; Exons ; Female ; Genetic Linkage ; Humans
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Bibliographic reference Vikkula, Miikka ; Palotie, A ; Ritvaniemi, P ; Ott, J ; Ala-Kokko, L ; et. al. Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.. In: Arthritis and rheumatism, Vol. 36, no.3, p. 401-9 (1993)
Permanent URL http://hdl.handle.net/2078.1/120820