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

✍ Scribed by Miikka Vikkula; Aarno Palotie; Pertti Ritvaniemi; JÜRg Ott; Leena Ala-Kokko; Ulla Sievers; Kimmo Aho; Leena Peltonen

Book ID: 102753009
Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 876 KB
Volume: 36
Category: Article
ISSN: 0004-3591
DOI: 10.1002/art.1780360317

No coin nor oath required. For personal study only.

✦ Synopsis

Objective. To specify in detail the clinical phenotype in 2 Finnish families demonstrating linkage between the type I1 procollagen gene (COL2A1) and osteoarthritis (OA). We also reevaluated the linkage and screened the exon sequences of the COL2Al gene for mutations.

Methods. We used single-stranded conformation polymorphism and denaturing gradient-gel electrophoresis techniques for the analyses.

Results. The patients' phenotype represented typical, but early-onset, OA. There was no clinical or radiographic evidence of chondrodysplasia. No muta-From the

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